Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo da prolina
ORPHA:289866CID-10 · E72.5CID-11 · 5C50.8DOENÇA RARA

Doença metabólica hereditária que tem como base a interrupção do processo metabólico da prolina.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença metabólica hereditária que tem como base a interrupção do processo metabólico da prolina.

Publicações científicas
7 artigos
Último publicado: 2022
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8CID-10: E72.5
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
58 sintomas
🦴
Ossos e articulações
34 sintomas
😀
Face
32 sintomas
❤️
Coração
17 sintomas
🧬
Pele e cabelo
16 sintomas
💪
Músculos
14 sintomas

+ 136 sintomas em outras categorias

Características mais comuns

Cisterna magna aumentada
Neuropatia periférica
Diarreia
Arreflexia
Fadiga crônica
Hiperalaninemia
364sintomas
Sem dados (364)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 364 características clínicas mais associadas, ordenadas por frequência.

Cisterna magna aumentadaEnlarged cisterna magna
Neuropatia periféricaPeripheral neuropathy
DiarreiaDiarrhea
ArreflexiaAreflexia
Fadiga crônicaChronic fatigue

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Total histórico7PubMed
Últimos 10 anos200publicações
Pico2026121 papers
Linha do tempo
2025Hoje · 2026🧪 2014Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

7 genes identificados com associação a esta condição.

ALDH18A1Delta-1-pyrroline-5-carboxylate synthaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine

LOCALIZAÇÃO

MitochondrionMitochondrion matrix

VIAS BIOLÓGICAS (1)
Mitochondrial protein degradation
MECANISMO DE DOENÇA

Cutis laxa, autosomal recessive, 3A

A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities.

OUTRAS DOENÇAS (6)
hereditary spastic paraplegia 9Aautosomal recessive complex spastic paraplegia type 9Bcutis laxa, autosomal dominant 3ALDH18A1-related de Barsy syndrome
HGNC:9722UniProt:P54886
PYCR1Pyrroline-5-carboxylate reductase 1, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic concentrations, has higher specific activity in the presence of NADH (PubMed:16730026, PubMed:23024808). Involved in the cellular response to oxidative stress (PubMed:16730026, PubMed:19648921)

LOCALIZAÇÃO

Mitochondrion

VIAS BIOLÓGICAS (1)
Glutamate and glutamine metabolism
MECANISMO DE DOENÇA

Cutis laxa, autosomal recessive, 2B

A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
80.3 TPM
Linfócitos
66.8 TPM
Glândula salivar
38.9 TPM
Pâncreas
38.5 TPM
Estômago
25.9 TPM
OUTRAS DOENÇAS (3)
PYCR1-related de Barsy syndromeautosomal recessive cutis laxa type 2Bgeroderma osteodysplastica
HGNC:9721UniProt:P32322
ATP6V1E1V-type proton ATPase subunit E 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:32001091, PubMed:33065002). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091)

LOCALIZAÇÃO

Apical cell membraneCytoplasmic vesicle, secretory vesicle, synaptic vesicle membraneCytoplasmic vesicle, clathrin-coated vesicle membrane

VIAS BIOLÓGICAS (6)
Insulin receptor recyclingTransferrin endocytosis and recyclingIon channel transportROS and RNS production in phagocytesAmino acids regulate mTORC1
MECANISMO DE DOENÇA

Cutis laxa, autosomal recessive, 2C

A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2C patients exhibit severe hypotonia as well as cardiovascular involvement.

OUTRAS DOENÇAS (2)
autosomal recessive cutis laxa type 2Cautosomal recessive cutis laxa type 2, classic type
HGNC:857UniProt:P36543
PRODHProline dehydrogenase 1, mitochondrialDisease-causing germline mutation(s) inDesconhecido
FUNÇÃO

Converts proline to delta-1-pyrroline-5-carboxylate

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (1)
Proline catabolism
MECANISMO DE DOENÇA

Hyperprolinemia 1

An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and intellectual disability. Association with certain forms of schizophrenia have been reported.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
62.7 TPM
Skin Sun Exposed Lower leg
61.6 TPM
Skin Not Sun Exposed Suprapubic
56.9 TPM
Córtex cerebral
50.8 TPM
Brain Anterior cingulate cortex BA24
44.0 TPM
OUTRAS DOENÇAS (2)
hyperprolinemia type 1schizophrenia 4
HGNC:9453UniProt:O43272
ALDH4A1Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Irreversible conversion of delta-1-pyrroline-5-carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (2)
Glyoxylate metabolism and glycine degradationProline catabolism
MECANISMO DE DOENÇA

Hyperprolinemia 2

An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.

OUTRAS DOENÇAS (1)
hyperprolinemia type 2
HGNC:406UniProt:P30038
ATP6V1AV-type proton ATPase catalytic subunit ADisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:8463241). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (PubMed:32001091). In aerobic conditions, invol

LOCALIZAÇÃO

CytoplasmCytoplasm, cytosolCytoplasmic vesicle, secretory vesicleCytoplasmic vesicle, clathrin-coated vesicle membraneLysosome

VIAS BIOLÓGICAS (6)
Insulin receptor recyclingTransferrin endocytosis and recyclingIon channel transportROS and RNS production in phagocytesAmino acids regulate mTORC1
MECANISMO DE DOENÇA

Cutis laxa, autosomal recessive, 2D

A form of cutis laxa, a disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, and a general connective tissue weakness. Most ARCL2D patients exhibit severe hypotonia as well as cardiovascular and neurologic involvement.

OUTRAS DOENÇAS (4)
autosomal recessive cutis laxa type 2Ddevelopmental and epileptic encephalopathy 93undetermined early-onset epileptic encephalopathyautosomal recessive cutis laxa type 2, classic type
HGNC:851UniProt:P38606
ATP6V0A2V-type proton ATPase 116 kDa subunit a 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Essential component of the endosomal pH-s

LOCALIZAÇÃO

Cell membraneEndosome membrane

VIAS BIOLÓGICAS (3)
Insulin receptor recyclingTransferrin endocytosis and recyclingIon channel transport
MECANISMO DE DOENÇA

Cutis laxa, autosomal recessive, 2A

A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases.

OUTRAS DOENÇAS (3)
wrinkly skin syndromeautosomal recessive cutis laxa type 2Aautosomal recessive cutis laxa type 2, classic type
HGNC:18481UniProt:Q9Y487

Variantes genéticas (ClinVar)

412 variantes patogênicas registradas no ClinVar.

🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1702C>T (p.Gln568Ter) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.2110+1G>T ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.358G>A (p.Val120Ile) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1274G>A (p.Arg425His) ()
🧬 ALDH18A1: NM_002860.4(ALDH18A1):c.1895A>G (p.Gln632Arg) ()
Ver todas no ClinVar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença do metabolismo da prolina

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo da prolina

Centros para Doença do metabolismo da prolina

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto da Criança e do Adolescente (ICr-HCFMUSP)

Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695

Serviço de Referência

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Integrated multi-omics analyses elucidate the key regulatory networks in response to Tomato brown rugose fruit virus infection in Solanum lycopersicum L.

Plant cell reports2026 Mar 25

This study analyzed the transcriptome, proteome and ubiquitylome of ToBRFV-infected tomato plants and verified the antiviral roles of SlCHS, SlPAO, and SlCCoAOMT in tomato plants through TRV-VIGS assays. Tomato brown rugose fruit virus (ToBRFV) infection causes leaf mottling and fruit wrinkling, significantly affecting tomato quality. Understanding the mechanisms of tomato plants in combating ToBRFV infection is fundamental to the development of effective strategies for viral disease control and management. To investigate the effects of ToBRFV infection on the gene regulatory network of tomato plants, we performed transcriptome, proteome and ubiquitylome sequencing on ToBRFV-infected tomato plants. A total of 874 differentially expressed genes (DEGs) and 675 differentially expressed proteins (DEPs) were identified. Most of them were involved in hormone signal transduction, MAPK signaling pathway, flavonoid biosynthesis, arginine and proline metabolism, and phenylalanine metabolism, and some of these proteins were modified by ubiquitination. Furthermore, virus-induced gene silencing (VIGS) assays revealed that silencing SlCCoAOMT or SlCHS, two flavonoid biosynthesis-related genes, enhanced tomato resistance to ToBRFV infection, while silencing SlPAO, an arginine and proline metabolism-related gene, promoted ToBRFV infection. These results reveal the key regulatory networks of tomato in response to ToBRFV infection, and identify SlCCoAOMT, SlCHS and SlPAO as potential candidate genes for disease-resistant breeding.

#2

Bacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.

Plant cell reports2026 Mar 18

Bacillus amyloliquefaciens (SN13) priming boosts rice resistance to sheath blight through activation of autophagy, regulation ofphytohormone signaling, and metabolic reprogramming. Sheath blight disease, caused by Rhizoctonia solani, poses a major threat to rice productivity worldwide. The present study examines how phytohormone signalling networks coordinate with SN13-mediated defense and reshape metabolic pathways during pathogen challenge. Glasshouse experiments revealed that SN13 inoculation markedly improved physiological resilience under R. solani infection, as evidenced by enhanced chlorophyll content, reduced lipid peroxidation, and lower accumulation of proline and total soluble sugars. Improved antioxidative capacity and efficient ROS detoxification was further confirmed through DAB and NBT staining. Gene expression profiling demonstrated substantial induction of autophagy-related and phytohormone-responsive genes, particularly under combined SN13-salicylic acid (SA) or SN13-jasmonic acid (JA) treatments. While pathogen infection alone suppressed autophagy and disrupted endogenous hormone balance, SN13 reinstated ATG gene expression, stabilized auxin, JA, and cytokinin signaling, and mitigated cellular damage. Collectively, these findings demonstrate that SN13 enhances rice tolerance to sheath blight by coordinating autophagy, phytohormonal cross-regulation, and metabolic reprogramming, thus offering a promising eco-friendly strategy for sustainable disease management.

#3

Early administration of renin-angiotensin system inhibitors improves survival and cardiac remodeling in heart failure with preserved ejection fraction.

PloS one2026

Heart failure with preserved ejection fraction (HFpEF) is a major cardiovascular disease that accounts for 50% of all cases of heart failure. Patients with HFpEF have limited therapeutic options because of the complex pathogenesis of this disease. Decreased nitric oxide (NO) levels and increased renin-angiotensin system (RAS) activity may be associated with HFpEF pathogenesis. However, whether soluble guanylate cyclase (sGC) stimulators and RAS inhibitors protect against HFpEF remains unclear. This study aimed to evaluate the preventive effects of RAS inhibitors captopril (Cap) and/or sacubitril/valsartan (Sac/Val) and sGC stimulator vericiguat (Ver) on HFpEF progression. HFpEF was induced in 8-week-old male Wistar rats through intake of L-arginine methyl ester and a high-fat diet. Results showed that the survival rate after 8 weeks of treatment was 100% in the normal diet (Cont group), Cap, and Sac/Val groups, whereas it was approximately 20% in the HFpEF and Ver groups. No significant differences in the left ventricular systolic function were found. In addition, histochemistry revealed that myocardial hypertrophy and interstitial fibrosis obviously increased in the HFpEF group but not in the Cap and Sac/Val groups compared with the Cont group. Furthermore, RNA sequencing analysis showed that the expression of genes related to inflammatory response, hypertrophy, and extracellular matrix-receptor interaction increased in the HFpEF group and decreased in the Cap and Sac/Val groups. In conclusion, early administration of Cap or Sac/Val may reduce the risk of developing HFpEF by inhibiting the RAS pathway rather than the NO-sGC-cGMP pathway.

#4

Small proline-rich protein 1A is a novel target of peroxisome proliferator-activated receptor gamma in steatotic liver disease.

Cellular signalling2026 Mar 02

Peroxisome proliferator-activated receptor gamma (PPARγ) is a central regulator of lipid homeostasis; however, the specific downstream effectors mediating hepatic steatosis remain incompletely defined. In this study, we investigated the molecular basis, by which PPARγ regulates the expression of small proline-rich protein 1 A (SPRR1A) during the development of fatty liver. We initially performed a bioinformatic re-analysis of publicly available microarray datasets to characterize the gene expression profiles associated with hepatic steatosis in leptin-deficient type 2 diabetic (ob/ob) mice and patients with metabolic dysfunction-associated steatotic liver disease (MASLD). SPRR1A expression was markedly elevated in steatotic livers of both human patients and mouse models. This induction was substantially attenuated in ob/ob mice lacking hepatic Pparg, indicating a PPARγ-dependent regulatory mechanism. Consistently, increased hepatic Sprr1a expression was observed in several experimental models of fatty liver disease, including genetic (db/db), dietary (high-fat and Western diets), and alcohol-induced models. In silico transcriptomic analyses of publicly archived human liver samples further demonstrated significantly higher SPRR1A expression in patients with fatty liver disorders, including MASLD, than in non-steatotic controls. Reporter gene and electrophoretic mobility shift analyses demonstrated that PPARγ directly activated Sprr1a transcription through a conserved PPARγ-responsive element in its promoter. Collectively, these results identify Sprr1a as a previously unrecognized transcriptional target of PPARγ in the context of hepatic steatosis.

#5

Sex-based multiomics analysis uncovers metabolic and molecular mediators linking MASH and atherosclerosis.

JHEP reports : innovation in hepatology2026 Mar

Atherosclerotic cardiovascular disease (ASCVD) is the leading cause of death in patients with metabolic dysfunction-associated steatohepatitis (MASH). No therapy targets both diseases simultaneously, and a roadblock for discovering new treatments is the lack of animal models that recapitulate both diseases, especially in females. Male and female Ldlr -/- mice (n = 8-13) were fed a western diet (WD), modified choline-deficient high-fat diet (mCDHFD), or modified MASH-inducing diet (mMASHD) containing equivalent physiological levels of cholesterol. Comprehensive multiomics including metabolomics, lipidomics, and transcriptomics, alongside histopathological and biochemical analyses, were integrated to characterize concurrent MASH and atherosclerosis. Transcriptomics was validated in other mouse models and integrated with human data (n = 79). While mCDHFD induced MASH-fibrosis in both sexes, WD was effective only in males, whereas mMASHD primarily affected females. mCDHFD induced concurrent MASH and atherosclerosis in both sexes, while WD effectively recapitulated disease co-occurrence only in males. Correlation analyses highlighted links between MASH and atherosclerosis, identifying circulating cholesterol and C-C motif chemokine ligand 2 (CCL2) as potential predictors of coexisting disease (p <0.04). Integrated metabolomic and transcriptomic analyses identified arginine-proline, glycine-serine, glutathione, and sphingolipid metabolism (p <0.03) as key dysregulated pathways, with sphinganine emerging as a predictor of disease severity. Hepatic itaconate and lactate levels were positively correlated with disease severity, whereas glycine, carnitine, 2-aminomuconic acid, and thiamine pyrophosphate were negatively associated (p <0.04). Lipidomic analyses revealed dysregulated polyunsaturated fatty acid, steryl ester, and dihexosylceramide metabolism. Integration of mouse and human transcriptomes revealed similarities in metabolic and proinflammatory/proatherogenic pathways. This sex-based multiomics analysis establishes a murine model of concurrent MASH and atherosclerosis, reveals sex-specific dietary responses, and identifies metabolic and transcriptional pathways with potential utility as biomarkers and therapeutic targets. This study addresses the critical need for an animal model that replicates both metabolic dysfunction-associated steatohepatitis (MASH) and atherosclerotic cardiovascular disease, particularly in females, to facilitate therapeutic development. Using male and female Ldlr -/- mice, we found that different diets containing equivalent physiological levels of cholesterol induce sex-specific responses, with a modified choline-deficient high-fat diet effectively modeling both diseases in both sexes, while a western diet is effective only in males. Multiomics analyses identified key metabolic and inflammatory pathways linking MASH and atherosclerosis that mirror transcriptomic signatures found in humans, and highlight circulating cholesterol, CCL2, and sphinganine as potential biomarkers. These findings establish a translational model and reveal sex-specific metabolic pathways that will advance our understanding of the shared pathophysiology of MASH and atherosclerosis, and facilitate the development of dual therapeutic approaches, addressing an urgent unmet clinical need.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Metabolic reprogramming induced by CRP deficiency or human CRP transgenic in influenza-infected mice.

Frontiers in immunology
2026

Integrated multi-omics analyses elucidate the key regulatory networks in response to Tomato brown rugose fruit virus infection in Solanum lycopersicum L.

Plant cell reports
2026

Investigating the role of FKBP4 in testis germ cell tumor via integrated in silico approach.

In silico pharmacology
2026

Microglia cause HIV-induced transcriptional and metabolic changes in human neural organoids.

Communications biology
2026

Fusarium oxysporum f. sp. cubense Race 4 Effector, Foc4-305, Targets a Proline-Rich Protein in Banana and Contributes to Virulence.

Journal of agricultural and food chemistry
2026

Bacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.

Plant cell reports
2026

Elucidating the Anti-thrombotic Mechanism of Equiseti hiemalis Herba through Integrated Pharmacology.

Current pharmaceutical design
2026

The ROS-triggered antibacterial mechanism of zinc oxide nanoparticles against Xanthomonas citri subsp. citri for citrus canker management.

Pesticide biochemistry and physiology
2026

Arginine improves growth and health status of post-larval Litopenaeus vannamei by modulating amino acid metabolism and enhancing antioxidative defense.

Amino acids
2026

Mass drug administration of praziquantel lowers the susceptibility of school-aged children to Schistosoma mansoni in endemic areas.

Frontiers in immunology
2026

Fluorogenic Ligand Enables Identification of NSD3-Overexpressed Tumors by Targeting the PWWP1 Domain of NSD3.

Analytical chemistry
2026

Early administration of renin-angiotensin system inhibitors improves survival and cardiac remodeling in heart failure with preserved ejection fraction.

PloS one
2026

Integrated Genome-wide Association and Single-cell Transcriptomic Analysis Identifies OAT as Therapeutic Targets for Periodontitis.

Inflammation
2026

Proteomic mapping of Rosa damascena nanovesicles reveals plastid mitochondrial metabolic convergence and antimicrobial peptides.

Plant signaling &amp; behavior
2026

A synbiotic combination of arabinogalactan and Bacteroides thetaiotaomicron ameliorates ulcerative colitis in mice.

Food research international (Ottawa, Ont.)
2026

Chronic Pyraclostrobin Exposure-Induced Developmental Toxicity and ABC Transporter-Associated Metabolism Disorders during Zebrafish Embryo-Larval Stages.

Journal of agricultural and food chemistry
2026

Proline/serine-rich coiled-coil 1 alleviates atherosclerosis via remodeling tryptophan metabolism mediated by Akkermansia muciniphila.

Experimental &amp; molecular medicine
2026

Small proline-rich protein 1A is a novel target of peroxisome proliferator-activated receptor gamma in steatotic liver disease.

Cellular signalling
2026

Evaluating the Impact of Phosphorylation on the Dynamics of the Tau Protein Proline-Rich Region.

Journal of chemical theory and computation
2026

Sex-based multiomics analysis uncovers metabolic and molecular mediators linking MASH and atherosclerosis.

JHEP reports : innovation in hepatology
2026

Serum Prolidase Activity and its Association with Oxidative Stress and Inflammation in Silicosis.

Nigerian journal of clinical practice
2026

Ultra-performance liquid chromatography-mass spectrometry analysis of post-mortem brain tissue reveals specific amino acid profile dysregulation in Parkinson's disease and Alzheimer's disease patients.

NPJ Parkinson's disease
2026

Red Blood Cell Metabolomic Signatures in β-Thalassemia Heterozygotes With Elevated HbA1c: Implications for Biomarkers and Personalized Medicine.

Journal of diabetes science and technology
2026

Multilayer Timing of Cardiac Circadian Regulation Informs Prevention and Treatment of Cardiovascular Disease.

Vascular health and risk management
2026

Loss of Nonhematopoietic Osteopontin Weakens the Intestinal Barrier and Alters the Microbiome and Metabolome in Mice.

Gastro hep advances
2026

Metabolomics biomarkers for precision psychiatry.

Frontiers in psychiatry
2026

Integrated pathological assessment and multi-omics analysis of the effects of Pinellia ternata aqueous extract on lung and spleen dysfunction in a rat model of phlegm-dampness obstruction.

Journal of ethnopharmacology
2026

Nontargeted screening identifies mixtures of environmental pollutants that are associated with perturbations to amino acid and fatty acid metabolic pathways during early pregnancy.

Environment international
2026

The causal association between plasma amino acid levels and abdominal aortic aneurysm: insights from Mendelian randomization and an experimental validation.

European journal of pharmacology
2026

P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.

Human mutation
2026

Prolyl tRNA Synthetase Is Required for Mammarenavirus Multiplication.

Viruses
2026

Prolyl 3-Hydroxylase 2 Supports a Pro-Angiogenic Milieu Promoting Colorectal Cancer Progression and Metastasis.

International journal of molecular sciences
2026

Lower serum threonine and glutamine levels could be a predictor for multiple sclerosis in pregnancy.

Scandinavian journal of clinical and laboratory investigation
2026

Enhanced Biocontrol of Root-Knot Nematodes Through Co-Cultivation of Clonostachys rosea and Bacillus velezensis: Proline-Driven Bacterial Fitness and Synergistic Metabolite Production.

Journal of fungi (Basel, Switzerland)
2026

Proline-Mediated Inhibition of ATPIF1-mTOR Signaling Alleviates Radiation-Induced Macrophage Polarization and Colon Inflammation.

Inflammation
2026

A gated hydrophobic funnel within BAX binds bioactive lipids to potentiate pro-apoptotic function.

Nature communications
2026

Nutrient microenvironments reprogram RPE metabolism.

bioRxiv : the preprint server for biology
2026

Microbiome- metabolome signatures and Behavioral alterations in a progressive MPTP-induced mouse model of Parkinson's disease.

Experimental neurology
2026

Nontargeted metabolomics analysis of potential biomarkers for patients with chronic ischemic stroke in extremely cold rural regions: An exploratory case-control study.

PloS one
2025

Maternal Toxoplasma gondii Infection Perturbs Foetal and Maternal Foetal Interface Metabolism, Exposing the Foetus to Kynurenine.

British journal of biomedical science
2026

Quantification of D-Amino Acids in Type 1 Diabetes-Affected Human Serum.

Journal of the American Society for Mass Spectrometry
2026

Targeted serum metabolomics reveals alterations in amino acid and neurotransmitter pathways in Parkinson's disease.

The Analyst
2026

Gyrate atrophy of the choroid and retina: a tertiary center experience.

Orphanet journal of rare diseases
2026

C9orf72-derived dipeptide repeat proteins poly-PR disrupt membrane excitability and synaptic function in cortical neurons.

Neurobiology of disease
2026

2-Ethylhexanol inhibit Botrytis cinerea by interfering in sugar and amino acid metabolism.

NPJ science of food
2026

Discovery of first-in-class melanostatin-based ago-allosteric modulators of the dopamine D2 receptors.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2026

PRR15 suppresses renal cell carcinoma progression via the NF-κB/FDX1 axis to induce cuproptosis and mitochondrial dysfunction.

Oncogene
2026

Echinoderm collagen as a neuromodulatory antioxidant: biochemical characterization and molecular interaction with NMDA receptor.

Archives of biochemistry and biophysics
2026

Optimal preclinical models for human dose projection of SARS-CoV-2 small molecule direct-acting antivirals.

Antiviral research
2026

Association Between Diet and Metabolome in Childhood and Adolescence: A Systematic Review.

Nutrition reviews
2026

Integrating virtual screening and molecular dynamics simulations to identify emodin as a PYCR1 inhibitor modulating docetaxel sensitivity in prostate cancer.

Journal of enzyme inhibition and medicinal chemistry
2026

Rising Star: G Protein-coupled Receptors (GPCRs) in Microenvironment Pharmacology and Sensory Perception Pharmacology.

Journal of molecular biology
2026

Targeted CSF metabolomics and conformal prediction improve diagnostic accuracy of normal pressure hydrocephalus.

Fluids and barriers of the CNS
2026

Integrative metabolomic and single-cell transcriptomic analysis of recurrent condyloma acuminatum in humans.

Scientific reports
2026

Gut microbial ammonia as a mediator of PFOS neurotoxicity and its remediation by the flavonoid Icaritin.

Gut microbes
2026

Pharmacokinetics, pathology and efficacy of SARS-CoV-2 main protease inhibitor VPC285785 in a murine model of coronavirus infection.

Scientific reports
2026

Analysis of genetic mutation distribution and metabolic characteristics in patients with primary carnitine deficiency from the Ganzhou area, China.

Clinica chimica acta; international journal of clinical chemistry
2026

Connexin43 Deficiency Leads to Ventricular Arrhythmias by Reprogramming Proline Metabolism.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2026

The mechanism of acetyl-L-carnitine on colorectal cancer and its metabolomic study.

Journal of pharmaceutical and biomedical analysis
2026

Plant-derived extracellular vesicles as a dual-function nanoplatform for synergistic neurovascular repair in ischemic stroke.

Biomaterials advances
2026

Bacillus velezensis Yao Suppresses Fusarium Solani-Induced Pepper Root Rot via Fengycin and Induces Systemic Resistance.

Physiologia plantarum
2025

Case Report: Hyperprolinemia type II in a child with autism spectrum disorder and ALDH4A1 gene variant in a consanguineous family.

Frontiers in pediatrics
2026

Alteration in Amino Acid Metabolism After Isocaloric, Energy-Restricted Ketogenic Diet in Women with Overweight and Obesity: Randomized KETO-MINOX Trial.

Nutrients
2026

Seed Oil of Lycium barbarum L. from Qaidam Basin Prevents and Treats UV-Induced Photodamage in BABL/c Mice Skin by Modulating Skin Microbiome and Amino Acid Metabolism.

International journal of molecular sciences
2026

Metabolomic profiling of cocaine plus ethanol poly-consumption in young adult rats: Insights into the incubation of drug seeking.

European journal of pharmacology
2026

The genetic fusion of thaumatin-like proteins with antimicrobial peptides or receptor-like kinases at different evolutionary time points contributes to plant resistance against Sclerotinia disease.

Plant physiology and biochemistry : PPB
2026

APM⁺ macrophages associated with plaque vulnerability via MIF-CD74 signaling: a multi-omics study.

Human genomics
2026

Mutations in the Aβ42 Recognition Sequence KLVFF Afford New Pentapeptide Inhibitors of Aβ42 Fibrillation: Computation-Driven Rational Design and Experimental Validation.

The journal of physical chemistry. B
2026

The R451 site is critical for PTPN18 to exert tumor suppressive effects in breast cancer through the negative regulatory interacting protein fibrillarin.

Cell death &amp; disease
2026

Absorption, distribution, metabolism, and excretion tactics toward the expedited discovery and development of the severe acute respiratory syndrome coronavirus-2 main protease inhibitor nirmatrelvir.

Drug metabolism and disposition: the biological fate of chemicals
2026

Shifts in amino acids profile in chronic pancreatitis.

PloS one
2026

Metabolic Alterations Induced by a Seizure-Causing Sodium Channel Mutation and their Partial Normalization by Dietary α-Linolenic Acid in Drosophila.

Neurochemical research
2026

SH3 domains selectively activate the PI3 kinase through non-conventional tertiary contacts.

Communications biology
2026

Parental glyphosate exposure primes tomato offspring for enhanced growth and stress tolerance.

Plant science : an international journal of experimental plant biology
2026

Rapid, non-invasive diagnosis of tuberculosis using desorption separation ionization mass spectrometry (DSI-MS) and urinary carbonyl metabolite fingerprints.

Talanta
2026

Integrated Proteomic and Metabolomic Profiling for Developing Novel Plasma-Based Diagnostic Models of Sarcopenia.

Journal of cachexia, sarcopenia and muscle
2026

<p>Prolyl hydroxylase domain proteins: Localization, regulation, function and their role in erythropoiesis (Review)</p>.

Molecular medicine reports
2026

Effect of the ACE inhibitor Zofenopril on the Oxidative Status of the Eye in Animals with Experimental Glaucoma.

Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti
2025

Vasoactive Effects of Chronic Treatment with ACE Inhibitor Zofenopril in Zucker Obese Diabetic Rats: The Role of Nitroso and Sul?de Signalization.

Physiological research
2026

Targeting SPAK suppresses progression and averts an immune exhaustive microenvironment in hepatocellular carcinoma.

Nature communications
2026

Nitrilotriacetic acid functionalized gold nanopillars enable stochastic detection and deep learning analysis of prolines and hydroxyprolines by surface enhanced Raman spectroscopy.

Nanoscale
2026

Transcriptomic signature-guided depletion of intermediate alveolar epithelial cells ameliorates pulmonary fibrosis in mice.

Nature communications
2026

Molecular basis and cellular effects of Janus-class-driven cytoplasmic PYK2 coacervates.

Communications biology
2026

A mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hypoactivity and cognitive deficits.

Brain research
2026

Investigating causal associations between serum metabolites and cataract by Mendelian randomization.

Medicine
2026

Executive Summary of the KDIGO 2026 Clinical Practice Guideline for the Management of Anemia in Chronic Kidney Disease (CKD).

Kidney international
2026

Socioeconomic Differences in Nutrient Intake, Metabolite Profiles, and Blood Pressure: The African-PREDICT Study.

The Journal of nutrition
2025

Qi-Fu-Yin ameliorates physiological frailty in male 5xFAD mice through remodeling the gut microbiota and modulating the cerebral cortex metabolism.

Frontiers in aging neuroscience
2025

The metabolomic profile of psoriatic arthritis patients unveils the unbalance of disease-related molecules and pathways.

Scientific reports
2026

Development of the fluorescence polarization-based competition assay for the E3 ligase GID4.

Bioorganic &amp; medicinal chemistry letters
2025

Rhizosphere-derived Stutzerimonas stutzeri AUMC B-503: a promising biocontrol and plant growth-promoting strain for managing brown spot disease in rice (Oryza sativa).

Frontiers in plant science
2025

Effect of IFN-τ on intestinal flora and metabolomics of Escherichia coli-mediated endometritis in mice.

Frontiers in microbiology
2026

NDRG1-HIF1α interaction in hypoxic signaling for pulmonary hypertension.

International journal of biological macromolecules
2026

Gut microbiota combined with metabolomics approach to investigate the processing-based detoxification mechanism of processed cream of Croton tiglium L. seeds.

Fitoterapia
2025

The effect of Tannic acid on colonic anastomosis in abdominal sepsis: An experimental study.

PloS one
2025

First exposure to second-generation antipsychotics alters gut microbiota and metabolic profiles in patients with glucose-lipid metabolism disorders.

Frontiers in psychiatry
2025

Cross-species analysis of FcγRIIa/b (CD32a/b) polymorphisms at position 131: structural and functional insights into the mechanism of IgG- mediated phagocytosis in human and macaque.

Frontiers in immunology
2025

Comparison of gastric mucosa microbiota in metabolically healthy and unhealthy obesity.

Diabetology &amp; metabolic syndrome
2026

Roxadustat induces erythroid differentiation of erythroleukemia cells through the hypoxia inducible factor-α/GATA binding protein 1 axis.

Cellular signalling
2025

Antiviral potential of crude extracts from two Streptomyces spp. against Cucumber Mosaic Virus infection under greenhouse conditions.

Scientific reports
2026

Localization of mutant huntingtin with HTT Exon1 P90 C-terminal neoepitope antibodies in relation to regional and neuronal vulnerability in forebrain in Q175 mice and human huntington's disease.

Journal of Huntington's disease
2026

An interpretable metabolomic-driven machine learning model for early prediction of knee structural OA progression.

Rheumatology (Oxford, England)
2026

Metabolomic Changes After Bariatric Surgery Adjusted for Glomerular Filtration Rate Suggest Mechanisms of Kidney Protection.

Obesity (Silver Spring, Md.)
2025

Plasma untargeted metabolomics reveals the metabolic landscape of NKTCL and aids in liquid biopsy for disease detection.

European journal of medical research
2026

Effects of alendronate and vitamin D on plasma metabolomic profiles in a rat model of osteoporosis.

Journal of pharmacological and toxicological methods
2026

Chronotype, serum metabolome, and nonalcoholic fatty liver disease in middle-aged and older adults: Association and potential mediation analyses.

Experimental gerontology
2026

Gut microbiome-metabolome dysregulation in systemic sclerosis: a multi-omics study.

Rheumatology (Oxford, England)
2026

Endothelial Dysfunction Contributes to Chondrocyte Senescence Associated With Insulin-Like Growth Factor-Binding Protein-6 in a Spontaneously Hypertensive Rat Model.

Journal of the American Heart Association
2025

Serum Metabolomic Signatures of Dyslipidemia in Narcolepsy Type 1: A Multi-Center Cross-Sectional Study.

Nature and science of sleep
2026

Bifidobacterium animalis subsp. lactis Bbm-19 ameliorates insomnia by remodeling the gut microbiota and restoring γ-aminobutyric acid and serotonin signaling.

Food &amp; function
2026

Epitope-specific antibodies can distinguish between soluble huntingtin exon-1 and its diverse cellular aggregates.

The Journal of biological chemistry
2026

Levan induced the resistance of tomato against Botrytis cinerea and pepper against Phytophthora capsici.

International journal of biological macromolecules
2026

Brusatol inhibits gastric cancer by targeting P4HA2 and supressing glycolysis-driven histone lactylation.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2025

Serum Metabolites and Heart Failure Risk: MESA and RS.

Journal of the American Heart Association
2025

Metabolic Predictors of CAD: Focus on Cystine, Methionine, Proline, and Threonine Circulating Levels-Exploratory Pilot Study.

Journal of clinical medicine
2025

Integrated multi-omics reveals terpenoid-driven metabolic and transcriptional regulation underlying sweetpotato resistance to black rot disease.

BMC plant biology
2025

Integrated salivary microbiome and metabolome profiling reveals ecological and functional alterations in severe early childhood caries.

Journal of translational medicine
2025

Iron status mediates the causal effects of high-altitude adaptation signals in the HIF-PHD axis on pulmonary vascular and right-heart outcomes.

Clinical and experimental hypertension (New York, N.Y. : 1993)
2025

The effect of SGLT2 inhibitor and HIF-PHI on the podocyte-specific molecules and cytoskeleton of diabetic podocytes.

BMC nephrology
2026

Dysregulation of argininosuccinate synthase 1, phosphoenolpyruvate carboxykinase 1, and carbonyl reductase 3: Key arginine-proline metabolic mediators in mesangioproliferative glomerulopathies.

International journal of biological macromolecules
2026

Amyloid-motif-dependent tau self-assembly is modulated by isoform sequence context.

Structure (London, England : 1993)
2025

Probing tau citrullination in Alzheimer's disease brains and mouse models of tauopathy.

Acta neuropathologica
2026

The dihydropyridine LA1011 modulates multiple Hsp90-co-chaperone interactions relevant to Alzheimer's disease.

Cell stress &amp; chaperones
2025

Structural insights into AVR-Rmg8 recognition mechanisms by the wheat blast resistance gene Rmg8.

Scientific reports
2025

Comparative effectiveness of hypoxia-inducible factor prolyl hydroxylase inhibitors versus erythropoiesis-stimulating agents on prognosis in non-dialysis chronic kidney disease: a propensity-matched cohort study.

Renal failure
2026

Oxidative hypoxia drives TGF-β1-induced fibrosis under normoxia.

Redox biology
2025

Plasma amino acid profile in obese children, adolescents, and adults: similarities or differences - a narrative review.

Endokrynologia Polska
2025

A Thin Film Micro-Extraction Based Salivary Metabolomics and Chemometric Strategy for Rapid Lung Cancer Diagnosis.

Thoracic research and practice
2026

Integrated metagenome and metabolome analysis reveals a disease signature of gut microbiota and the key gut microbiota-associated metabolite proline in schizophrenia.

Journal of psychiatric research
2025

A fly model of SCA36 reveals combinatorial neurotoxicity of hexanucleotide and dipeptide repeats.

PLoS genetics
2025

Proline transporters balance the salicylic acid-mediated trade-off between regeneration and immunity in plants.

bioRxiv : the preprint server for biology
2025

LINC02878/ZNF282/PYCR2 axis promotes proline synthesis and tumor progression in colorectal cancer.

Cellular and molecular life sciences : CMLS
2025

Cntn4 Gene Deficiency Promotes Autism-Like Phenotypes Associated with Gut Microbiota Perturbations and Gut-Brain Axis Metabolomic Alterations in Mice.

Molecular neurobiology
2026

Metabolomic Relationships Between Lung Cancer and Alzheimer's Disease Using Serum Nuclear Magnetic Resonance Spectroscopy.

NMR in biomedicine
2025

Sustainable approaches to manage fusarium root rot in faba bean.

International microbiology : the official journal of the Spanish Society for Microbiology
2025

Phosphorylation of the β2 integrin subunit CD18 contributes to Actinobacillus pleuropneumoniae ApxI-induced cytotoxicity through the downregulation of Akt activity.

Scientific reports
2026

The MAB_3513c gene plays a key role in intrinsic resistance of Mycobacterium abscessus to isoniazid and ethionamide.

Microbiology spectrum
2025

Integrated Transcriptomic and Physiological and Biochemical Analysis Revealed Response Mechanism of Rice (Oryza sativa L.) to Methylmercury Toxicity Stress.

Toxics
2025

Unveiling the Structure of PROT and ATB0,+: Unique Members of the Glycine Transporter Subfamily.

Molecules (Basel, Switzerland)
2026

Cullin 2 Elevates the Warburg Effect to Accelerate the Development of Hypoxic Pulmonary Hypertension.

The American journal of pathology
2025

Quantification of plasma tau species containing the proline-rich region as a biomarker in Alzheimer's disease.

Scientific reports
2025

Systemic and skeletal muscle metabolic signatures associated with early insulin resistance in just-weaned non-obese Goto-Kakizaki diabetic rats.

Biomedicine &amp; pharmacotherapy = Biomedecine &amp; pharmacotherapie
2025

Immunogenic Streptococcus equi cell surface proteins identified by ORFeome phage display.

mSphere
2026

An intrabody targeting PHD2 protects mice against acetaminophen-induced liver injury by attenuating ferroptosis.

Free radical biology &amp; medicine
2025

Effects of a Gain-of-Function Mutation in the Voltage-Gated Sodium Channel Gene, and of Dietary α-Linolenic Acid Supplementation, on Whole-Body Metabolism in Drosophila.

Research square
2025

The effects of combined low-dose cadmium and deltamethrin on mitochondrial bioenergetics and metabolism in human lung fibroblasts.

Toxicology reports
2025

Dual Hyaluronidase Genes hysA and hysAνSaβ Enhance MRSA ST398 Skin Infection.

ACS infectious diseases
2025

The P4HA1/HIF1α feedback loop modulates endothelial dysfunction in pulmonary hypertension.

Respiratory research
2025

A SARS-CoV-2 Mpro mutation conferring ensitrelvir resistance paradoxically increases nirmatrelvir susceptibility.

Nature communications
2026

Emerging roles of arginine metabolism in skeletal health and disease.

Metabolism: clinical and experimental
2026

Serum analysis of type 2 diabetes mellitus patients with low, moderate, and high risk of diabetic kidney disease using LC-MS metabolomics approach.

Journal of diabetes and its complications
2025

Bacillus subtilis and chitosan nanoparticles enhance potato virus Y (PVY) tolerance in tomato (Solanum lycopersicum L.) via modulation of antioxidants and secondary metabolites.

BMC plant biology
2025

Multidimensional engineering strategies for strengthening exogenous synthesis of collagens and elastin monomers.

International journal of biological macromolecules
2026

Effect of OmpA of Acinetobacter baumannii on apoptosis in pulmonary epithelial cells and its molecular mechanism.

Microbial pathogenesis
2025

Improvement of chilling tolerance and postharvest quality in mango fruit by pre-storage dopamine application.

Plant physiology and biochemistry : PPB
2025

Oral L-Arginine treatment attenuates Cryptococcus neoformans extrapulmonary dissemination and disease progression.

Virulence
2025

PYCR1 drives lung cancer progression through functional interactions with EGFR and TLR signaling pathways.

Experimental &amp; molecular medicine
2025

Effects of Hypoxia-Inducible Factor Prolyl Hydroxylase Inhibitors on Relationship Between B-Type Natriuretic Peptide and Hemoglobin Levels in Patients With Cardiorenal Anemia Syndrome.

Cardiovascular therapeutics
2025

Metabolomic Profiling by UPLC-QTOF/MS Reveals Potential Biomarkers and Metabolic Alterations in Pediatric Septic Shock.

Journal of inflammation research
2025

Click-Cyclized Cell Penetrating Peptides Containing Hydrophobic Proline Derivatives for Efficient Intracellular Delivery.

Angewandte Chemie (International ed. in English)
2025

Glutamine metabolism reprogramming promotes bladder cancer progression via PYCR1: a multi-omics and functional validation study.

Journal of translational medicine
2025

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Journal of neuromuscular diseases
2025

Ca2+-driven PDIA6 biomolecular condensation ensures proinsulin folding.

Nature cell biology
2025

Characterizing gut microbiota and fecal metabolites in intervertebral disc degeneration: insights into the gut-disc axis.

Journal of applied microbiology
2025

The MYO1F interactome reveals ASAP1, CD2AP and SH3KBP1 as novel adaptor proteins in podosomes and phagosomes.

Journal of cell science
2026

Molecular mechanisms of cold stress-induced lens opacity: An investigation through multi-omics integrative analysis.

Experimental eye research
2025

Emerging Roles of De Novo Proline Biosynthesis in Human Diseases.

FASEB bioAdvances
2025

Investigating the conformational landscape of human histidine-rich glycoprotein using amide HDX-MS.

The Biochemical journal
2025

Dietary amino acids and the odds of metabolic dysfunction-associated fatty liver disease (MAFLD) among overweight and obese children and adolescents: a principal component analysis approach.

Nutrition &amp; metabolism
2025

Physiological responses of Marsol and CA-90 chestnut plants to high temperature and water scarcity co-exposure: a comparative study.

Plant physiology and biochemistry : PPB
2025

[Ac-SDKP antagonizes lung fibrosis through EGFR/STAT3 pathway in silicosis rats].

Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseases
2026

Model-Informed Drug Development for Daprodustat Supports the Design of Individualized Dosing Regimens in Chronic Kidney Disease Patients With Anemia.

Clinical pharmacology and therapeutics
2026

Loss of arginase 2 disrupts striatum-specific polyamine homeostasis.

The FEBS journal
2025

Exploring the Causal Relationship Between Blood Metabolites and Chronic Periodontitis: Insights From Genetic Causal Analysis.

Journal of cellular and molecular medicine
2025

Guben-Qushi-Huayu formula and calycosin improve epidermal barrier function in psoriasis by inhibiting small proline-rich protein 1A.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

The Interaction of PELP1 With FHL2 Contributes to Ectopic Endometrial Stromal Cell Proliferation, Angiogenesis, and Inflammation in Endometriosis.

Cell biology international
2025

Comprehensive analysis of metabolic and molecular alterations in the blood of patients with Sjögren's syndrome based on untargeted metabolomics analysis.

BMC medical genomics
2025

The C-terminal tails of GroEL and its mitochondrial and chloroplastic homologs adopt polyproline II helices.

Protein science : a publication of the Protein Society
2026

Unveiling the mechanisms of Inonotus hispidus against polycystic ovary syndrome: An integrated metabolomics and network pharmacology approach in vivo and vitro.

The Journal of steroid biochemistry and molecular biology
2025

Metabolic reprogramming of hippocampal endothelial cells contributes to blood-brain barrier dysfunction in perioperative neurocognitive disorder.

Biochemical and biophysical research communications
2025

Biological Peptides, Metabolites and Nanoparticles from Potassium-Solubilizing Bacteria: A Recent Horizon in Antimicrobial and Anti-biofilm Strategies.

Current microbiology
2025

Non-invasive hair metabolome analysis reveals GERD and thyroid dysfunction in pulmonary fibrosis patients.

Metabolism open
2026

Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes.

HGG advances
2025

Eicosapentaenoic Acid Modulates 3-Chloro-1,2-propanediol Dipalmitate Ester-Induced Disrupted Metabolism: A Dual-Approach Analysis Using Nontargeted Metabolomics and Computational Modeling.

Journal of agricultural and food chemistry
2025

Pharmacological inhibition of SPAK-NKCC1 complex attenuates astrogliosis and restores cerebral blood flow in a mouse model of VCID.

Acta neuropathologica communications
2026

Captopril restores microglial homeostasis and reverses ASD-like phenotype in a model of ASD induced by exposure in utero to anti-caspr2 IgG.

Molecular psychiatry
2026

Oxidized angiotensin II peptides as mediators of cell signaling?

Free radical biology &amp; medicine
2025

Stabilisation of HIF signalling in the mouse epicardium extends embryonic potential and neonatal heart regeneration.

eLife
2025

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.

European journal of human genetics : EJHG
2025

Pediococcus acidilactici PA-1 Alleviates Diet-Induced Obesity by Modulating Hepatic Amino Acid Metabolism and Gut Microbiota in Mice.

Probiotics and antimicrobial proteins
2025

Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.

eLife
2026

Multi-omics data improves one-year mortality prediction in acute heart failure.

Clinica chimica acta; international journal of clinical chemistry
2025

Associations between circulating amino acids and hepatic steatosis indices in Iranian adults aged over 50: findings from the Bushehr elderly health (BEH) program.

Journal of diabetes and metabolic disorders
2026

Metabolic changes in root exudates of plants with different disease severity affect plant resistance by regulating the rhizosphere microbiome.

Pest management science
2025

Paclitaxel resistance-associated metabolic events in ovarian cancer cells.

Metabolomics : Official journal of the Metabolomic Society
2025

Role of N,N,N Trimethyl-L-alanyl-L-proline Betaine Levels in the Process of Myocardial Infarction.

Journal of cardiovascular translational research
2025

Yiai Fuzheng decoction inhibits triple-negative breast cancer by remodeling the immune microenvironment.

Frontiers in immunology
2025

Identification of biomarkers in gynecologic cancers: a machine learning approach for metabolomics.

Translational and clinical pharmacology
2025

Proline Metabolism in Cancer: Emerging Roles in Redox Homeostasis and Therapeutic Opportunities.

Cancers
2025

Enhanced Collagen Prolyl 4-Hydroxylase Activity and Expression Promote Cancer Progression via Both Canonical and Non-Canonical Mechanisms.

International journal of molecular sciences

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Ainda não existe comunidade no Raras para Doença do metabolismo da prolina

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Integrated multi-omics analyses elucidate the key regulatory networks in response to Tomato brown rugose fruit virus infection in Solanum lycopersicum L.
    Plant cell reports· 2026· PMID 41876888mais citado
  2. Bacillus amyloliquefaciens induces autophagy-mediated defense, phytohormonal modulation, and metabolic reprogramming in Oryza sativa to counteract Rhizoctonia solani sheath blight.
    Plant cell reports· 2026· PMID 41845042mais citado
  3. Early administration of renin-angiotensin system inhibitors improves survival and cardiac remodeling in heart failure with preserved ejection fraction.
    PloS one· 2026· PMID 41818254mais citado
  4. Small proline-rich protein 1A is a novel target of peroxisome proliferator-activated receptor gamma in steatotic liver disease.
    Cellular signalling· 2026· PMID 41780810mais citado
  5. Sex-based multiomics analysis uncovers metabolic and molecular mediators linking MASH and atherosclerosis.
    JHEP reports : innovation in hepatology· 2026· PMID 41777553mais citado
  6. Molecular docking, 3D-QASR and molecular dynamics simulations of thiazoles Pin1 inhibitors.
    J Biomol Struct Dyn· 2022· PMID 34499020recente
  7. Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant.
    Metab Brain Dis· 2021· PMID 34037900recente
  8. Crosstalk Among Disrupted Glutamatergic and Cholinergic Homeostasis and Inflammatory Response in Mechanisms Elicited by Proline in Astrocytes.
    Mol Neurobiol· 2016· PMID 25579384recente
  9. Proline-induced changes in acetylcholinesterase activity and gene expression in zebrafish brain: reversal by antipsychotic drugs.
    Neuroscience· 2013· PMID 23867765recente
  10. Cytoskeleton of cortical astrocytes as a target to proline through oxidative stress mechanisms.
    Exp Cell Res· 2013· PMID 23142028recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:289866(Orphanet)
  2. MONDO:0017355(MONDO)
  3. GARD:21157(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q13637044(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença do metabolismo da prolina
Compêndio · Raras BR

Doença do metabolismo da prolina

ORPHA:289866 · MONDO:0017355
CID-10
E72.5 · Distúrbios do metabolismo da glicina
CID-11
MedGen
UMLS
C2931835
Wikidata
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