Raras
Buscar doenças, sintomas, genes...
Doença da biossíntese dos esteróis
ORPHA:79195DOENÇA RARA

É uma doença metabólica hereditária que acontece por uma falha no processo de produção de substâncias gordurosas importantes para o corpo.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

É uma doença metabólica hereditária que acontece por uma falha no processo de produção de substâncias gordurosas importantes para o corpo.

Publicações científicas
1.341 artigos
Último publicado: 2026 Apr 17
🏥
SUS: Sem cobertura SUSScore: 0%
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Sinais e sintomas

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

Partes do corpo afetadas

🦴
Ossos e articulações
93 sintomas
😀
Face
45 sintomas
🧠
Neurológico
36 sintomas
🫃
Digestivo
34 sintomas
🧬
Pele e cabelo
29 sintomas
👁️
Olhos
21 sintomas

+ 208 sintomas em outras categorias

Características mais comuns

Falange distal do dedo curta
Dente supranumerário
Anormalidade da vesícula biliar
Gastrosquise
Displasia renal multicística
Hipertrofia clitoriana
558sintomas
Sem dados (558)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 558 características clínicas mais associadas, ordenadas por frequência.

Falange distal do dedo curtaShort distal phalanx of finger
Dente supranumerárioSupernumerary tooth
Anormalidade da vesícula biliarAbnormality of the gallbladder
GastrosquiseGastroschisis
Displasia renal multicísticaMulticystic kidney dysplasia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Total histórico1.341PubMed
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2025Hoje · 2026🧪 1999Primeiro 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

9 genes identificados com associação a esta condição.

SC5DLathosterol oxidaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid hormone synthesis (PubMed:10786622, PubMed:38297129). In addition to its essential role in cholesterol biosynthesis, it also indirectly regulates ferroptosis through the production of 7-DHC. By diverting the spread of damage caused by peroxyl radicals from

LOCALIZAÇÃO

Endoplasmic reticulum membrane

VIAS BIOLÓGICAS (3)
Cholesterol biosynthesis from zymosterol (modified Kandutsch-Russell pathway)Cholesterol biosynthesis via desmosterol (Bloch pathway)Activation of gene expression by SREBF (SREBP)
MECANISMO DE DOENÇA

Lathosterolosis

An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage.

EXPRESSÃO TECIDUAL(Ubíquo)
Brain Spinal cord cervical c-1
86.1 TPM
Fígado
72.7 TPM
Vagina
46.5 TPM
Esôfago - Mucosa
45.9 TPM
Próstata
43.2 TPM
OUTRAS DOENÇAS (1)
lathosterolosis
HGNC:10547UniProt:O75845
DHCR77-dehydrocholesterol reductaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core (PubMed:25637936, PubMed:38297129, PubMed:38297130, PubMed:9465114, PubMed:9634533). Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol (By simila

LOCALIZAÇÃO

Endoplasmic reticulum membrane

VIAS BIOLÓGICAS (3)
Cholesterol biosynthesis from zymosterol (modified Kandutsch-Russell pathway)Cholesterol biosynthesis via desmosterol (Bloch pathway)Activation of gene expression by SREBF (SREBP)
MECANISMO DE DOENÇA

Smith-Lemli-Opitz syndrome

An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.

EXPRESSÃO TECIDUAL(Ubíquo)
Skin Sun Exposed Lower leg
73.6 TPM
Skin Not Sun Exposed Suprapubic
64.0 TPM
Ovário
60.3 TPM
Fígado
60.2 TPM
Glândula adrenal
58.2 TPM
OUTRAS DOENÇAS (1)
Smith-Lemli-Opitz syndrome
HGNC:2860UniProt:Q9UBM7
ARSLArylsulfatase LDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matrix during development (PubMed:7720070). Has no activity toward steroid sulfates (PubMed:7720070)

LOCALIZAÇÃO

Golgi apparatus, Golgi stack

VIAS BIOLÓGICAS (2)
The activation of arylsulfatasesGlycosphingolipid catabolism
MECANISMO DE DOENÇA

Chondrodysplasia punctata 1, X-linked recessive

A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.

INTERAÇÕES PROTEICAS (5)
OUTRAS DOENÇAS (1)
X-linked chondrodysplasia punctata 1
HGNC:719UniProt:P51690
NSDHLSterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylatingDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity)

LOCALIZAÇÃO

Endoplasmic reticulum membraneLipid droplet

VIAS BIOLÓGICAS (2)
Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)Cholesterol biosynthesis via desmosterol (Bloch pathway)
MECANISMO DE DOENÇA

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
65.4 TPM
Fibroblastos
36.3 TPM
Vagina
35.7 TPM
Glândula adrenal
33.5 TPM
Linfócitos
32.8 TPM
OUTRAS DOENÇAS (2)
CK syndromeCHILD syndrome
HGNC:13398UniProt:Q15738
DHCR24Delta(24)-sterol reductaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:22178193, PubMed:25637936). In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141). Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892)

LOCALIZAÇÃO

Endoplasmic reticulum membraneGolgi apparatus membrane

VIAS BIOLÓGICAS (3)
Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)Cholesterol biosynthesis from zymosterol (modified Kandutsch-Russell pathway)Cholesterol biosynthesis via desmosterol (Bloch pathway)
MECANISMO DE DOENÇA

Desmosterolosis

Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
1544.2 TPM
Brain Spinal cord cervical c-1
624.1 TPM
Esôfago - Mucosa
469.7 TPM
Fígado
419.5 TPM
Skin Not Sun Exposed Suprapubic
412.1 TPM
OUTRAS DOENÇAS (1)
desmosterolosis
HGNC:2859UniProt:Q15392
LBRDelta(14)-sterol reductase LBRDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid

LOCALIZAÇÃO

Nucleus inner membraneEndoplasmic reticulum membraneCytoplasmNucleus

VIAS BIOLÓGICAS (3)
Initiation of Nuclear Envelope (NE) ReformationCholesterol biosynthesis via desmosterol (Bloch pathway)Regulation of MECP2 expression and activity
MECANISMO DE DOENÇA

Pelger-Huet anomaly

An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure.

EXPRESSÃO TECIDUAL(Ubíquo)
Cólon sigmoide
89.3 TPM
Linfócitos
88.9 TPM
Útero
68.5 TPM
Esôfago - Muscular
63.1 TPM
Cervix Ectocervix
54.0 TPM
OUTRAS DOENÇAS (4)
Greenberg dysplasiaregressive spondylometaphyseal dysplasiaPelger-Huet anomalyReynolds syndrome
HGNC:6518UniProt:Q14739
MSMO1Methylsterol monooxygenase 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:23583456, PubMed:26114596, PubMed:28673550, PubMed:36958722). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs vi

LOCALIZAÇÃO

Endoplasmic reticulum membrane

VIAS BIOLÓGICAS (2)
Zymostenol biosynthesis via lathosterol (Kandutsch-Russell pathway)Cholesterol biosynthesis via desmosterol (Bloch pathway)
MECANISMO DE DOENÇA

Microcephaly, congenital cataract, and psoriasiform dermatitis

An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay.

EXPRESSÃO TECIDUAL(Ubíquo)
Esôfago - Mucosa
137.5 TPM
Fígado
126.0 TPM
Brain Spinal cord cervical c-1
98.5 TPM
Vagina
83.2 TPM
Skin Not Sun Exposed Suprapubic
79.9 TPM
OUTRAS DOENÇAS (1)
microcephaly-congenital cataract-psoriasiform dermatitis syndrome
HGNC:10545UniProt:Q15800
MVKMevalonate kinaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:11278915, PubMed:18302342, PubMed:9325256, PubMed:9392419)

LOCALIZAÇÃO

CytoplasmPeroxisome

VIAS BIOLÓGICAS (2)
Lanosterol biosynthesisActivation of gene expression by SREBF (SREBP)
MECANISMO DE DOENÇA

Mevalonic aciduria

Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
41.6 TPM
Esôfago - Mucosa
40.7 TPM
Skin Sun Exposed Lower leg
34.1 TPM
Rim - Medula
33.4 TPM
Skin Not Sun Exposed Suprapubic
32.7 TPM
OUTRAS DOENÇAS (5)
mevalonic aciduriaporokeratosis 3, disseminated superficial actinic typehyperimmunoglobulinemia D with periodic feverporokeratosis of Mibelli
HGNC:7530UniProt:Q03426
EBP3-beta-hydroxysteroid-Delta(8),Delta(7)-isomeraseDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol Component of the microsomal antiestrogen binding site (AEBS), a multiproteic complex at the ER membrane that consists of an association between EBP and 7-dehydrocholesterol reductase/DHCR7 (PubMed:15175332, PubMed:20615952). This complex is responsible for cholesterol-5,6-epoxide hydrolase (ChEH) activity, which consists in the hyd

LOCALIZAÇÃO

Endoplasmic reticulum membraneNucleus envelopeCytoplasmic vesicle

VIAS BIOLÓGICAS (2)
Cholesterol biosynthesis from zymosterol (modified Kandutsch-Russell pathway)Cholesterol biosynthesis via desmosterol (Bloch pathway)
MECANISMO DE DOENÇA

Chondrodysplasia punctata 2, X-linked dominant

A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.

EXPRESSÃO TECIDUAL(Ubíquo)
Fígado
96.7 TPM
Glândula adrenal
90.1 TPM
Esôfago - Mucosa
63.3 TPM
Linfócitos
55.8 TPM
Vagina
40.9 TPM
OUTRAS DOENÇAS (2)
X-linked chondrodysplasia punctata 2MEND syndrome
HGNC:3133UniProt:Q15125

Variantes genéticas (ClinVar)

725 variantes patogênicas registradas no ClinVar.

🧬 SC5D: GRCh37/hg19 11q23.3-24.2(chr11:115887338-126148523)x3 ()
🧬 SC5D: NM_006918.5(SC5D):c.446G>A (p.Arg149His) ()
🧬 SC5D: GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 ()
🧬 SC5D: GRCh37/hg19 11q23.3-24.2(chr11:121183636-127620828)x1 ()
🧬 SC5D: Single allele ()
Ver todas no ClinVar

Diagnóstico

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

The Inherited Basis of Coronary Artery Disease.

The New England journal of medicine2026 Feb 05

Investigations of the genetic basis of coronary artery disease have led to advances in mechanistic insights, therapeutics, prevention, and risk prediction. Indeed, most contemporary medicines for coronary artery disease target pathways that promote atherosclerosis due to underpinning genetic mechanisms. Monogenic causes of coronary artery disease occur in approximately 1 out of 250 people and mostly result in massively elevated lipid levels. At the population level, hundreds of common variants with small effect sizes have even greater influence. They can be combined in polygenic risk scores that depict genetic risk in a person relative to the average in the general population. The risk among persons in the highest 5% is 3 to 5 times that among persons with an average score; relative risk derived from the polygenic risk score can be used to multiply the absolute risk derived from a clinical risk score. Key questions remain regarding the clinical value, cost-effectiveness, and implementation strategies required to integrate coronary artery disease polygenic risk scores into clinical practice.

#2

Statin prescription rates for prevention of atherosclerotic cardiovascular disease in adults 40-75 years old with type 1 diabetes.

BMJ open2026 Mar 18

Adults with type 1 diabetes (T1D) are at markedly elevated risk of atherosclerotic cardiovascular disease (ASCVD). Guidelines recommend statin use for ASCVD prevention in diabetes between the ages of 40 and 75 years. This study aimed to evaluate statin prescribing rates for primary and secondary prevention of ASCVD in this age range with T1D and to identify disparities and barriers to optimal statin use. A retrospective cross-sectional study of 266 adults with T1D aged 40-75 years was conducted at an integrated health system between 2020 and 2024. Demographic features, statin prescribing patterns, low-density lipoprotein (LDL) cholesterol levels and use of additional lipid-lowering agents were extracted from medical records. Barriers to prescribing were identified via endocrine physician documentation. Among 266 adults with T1D aged 40-75 years, only 43.2% (95% CI 0.37 to 0.49) were prescribed guideline-recommended statin and 39.3% of those with a history of ASCVD received a high-intensity statin. Overall, 47.7% (95% CI 0.42 to 0.54) of patients achieved the latest LDL cholesterol targets, and 53.0% (95% CI 0.47 to 0.59) if using pre-2023 targets. Deferral to another healthcare professional (23.3%), statin intolerance (15.8%), and clinical inertia (9.0%) were the most common barriers to therapy. In multivariable analyses, female sex was independently associated with lower odds of receiving guideline-recommended statin therapy (aOR 0.45, 95% CI 0.24 to 0.85, p=0.015) and lower odds of achieving LDL targets (OR 0.43, 95% CI 0.28 to 0.64, p=0.046), while ASCVD history was associated with higher odds of statin use (aOR 2.75, 95% CI 1.34 to 5.57, p=0.005). Very few patients received adjunctive lipid-lowering agents (ezetimibe 4.1%, PCSK9 inhibitor 0.4%, none on bempedoic acid). Notable gaps exist in statin prescribing and LDL goal attainment among adults with T1D, particularly women. Efforts to enhance care coordination, promote healthcare professional education and expand the use of adjunctive lipid-lowering therapies may help improve cardiovascular prevention in this high-risk population.

#3

Transcriptomic Insights Into Alzheimer's Disease: Differentially Expressed Genes and Cholesterol Metabolism.

CNS neuroscience & therapeutics2026 Mar

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline and memory impairment, posing significant challenges to affected individuals, their families, and healthcare systems globally. With projections indicating that the prevalence of AD could escalate to 152 million cases by 2050, there is an urgent need to elucidate the underlying mechanisms driving this condition. Additionally, developing effective diagnostic tools to aid in its early detection and management is crucial. In this study, we utilized a combination of Mendelian randomization and advanced machine learning techniques to analyze transcriptomic data from five distinct cohorts of Alzheimer's Disease (AD) patients. After addressing batch effects, we identified differentially expressed genes (DEGs) between the AD and control groups. Mendelian randomization analysis was conducted to assess the causal relationships between DEGs and AD risk. A Venn diagram was subsequently used to identify genes associated with cholesterol metabolism from the screened gene set. The shared DEGs were subjected to functional enrichment analyses. Furthermore, immune analysis was quantified using Gene Set Enrichment Analysis (GSEA). A diagnostic model for AD was developed by evaluating 113 combinations of 12 machine learning algorithms with 10-fold cross-validation on the training datasets, followed by external validation on test datasets. Finally, immunofluorescence staining was performed on mouse brain slices to verify the expression level of KLHL21. Our analyses identified a substantial number of differentially expressed genes (DEGs) demonstrating significant differences between Alzheimer's disease (AD) patients and control groups. Among these, we identified 29 genes associated with AD, with 21 of them linked to cholesterol metabolism, highlighting its pivotal role in the disease's pathogenesis. From this set, we developed a robust 8-gene diagnostic signature (comprising CHSY1, FIBP, DHCR24, HVCN1, KIFAP3, KLHL21, LETMD1, and SLC25A29), which outperformed existing AD diagnostic models in both training and testing cohorts. Additionally, complementary animal experiments were conducted to validate the biological relevance of these genes, further elucidating their roles in AD pathology. Our research identified critical genes and proposed novel pathways for early diagnosis and potential therapeutic interventions, paving the way for enhanced clinical applications in Alzheimer's disease management.

#4

Dexmedetomidine inhibits fear memory consolidation via the astrocyte-specific Srebf1-Phgdh pathway in the prelimbic prefrontal cortex.

Cell reports2026 Mar 17

Post-traumatic stress disorder (PTSD) develops following exposure to a traumatic event. However, effective prevention and treatments remain elusive. In this study, we report that sub-anesthetic doses of dexmedetomidine can alleviate fear in mice by inhibiting the consolidation of fear memory. Transcriptomic analysis identifies sterol regulatory element-binding protein 1 (Srebf1) as a key mediator of dexmedetomidine's effects. The potential mechanism of this involves dexmedetomidine reducing the nuclear translocation of Srebf1 specifically in prelimbic prefrontal cortex astrocytes, thereby decreasing the active transcriptional form of Srebf1. This results in the downregulation of its target gene, phosphoglycerate dehydrogenase (Phgdh). Phgdh, as the main synthetase of the N-methyl-D-aspartate receptor co-agonist D-serine, plays a crucial role in regulating synaptic stability and ultimately inhibiting the consolidation of fear memory. This work identifies the mechanism by which dexmedetomidine inhibits fear memory consolidation, providing a rationale for its preventive application and uncovering novel targets for PTSD intervention.

#5

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Metabolic brain disease2026 Mar 18

Cerebrotendinous xanthomatosis (CTX) is a rare, treatable bile acid synthesis disorder characterized by increased levels of cholestanol. Studies indicate that autism spectrum disorder (ASD) may be an early manifestation of CTX. Independent of CTX, disturbances in sterol and bile acid metabolism are observed in ASD. Therefore, this study aimed to estimate the prevalence of CTX in a pediatric ASD cohort using cholestanol-based screening with reflex CYP27A1 sequencing and to compare plasma sterol profiles among children with ASD. We conducted a single-center, cross-sectional study including 103 patients with ASD and 70 age-matched, normally developed children. Fasting plasma cholestanol, campesterol, stigmasterol and sitosterol were quantified by gas chromatography/mass spectrometry. Participants with cholestanol ≥ 7 µg/ml underwent CYP27A1 sequencing, and five-day dietary recalls were analyzed in 75 ASD participants. Elevated cholestanol was observed in 27 of 103 patients with ASD (26.2%) but in none of the controls (p < 0.001). No participant had biallelic pathogenic CYP27A1 variants; one heterozygous variant of uncertain significance was detected. Median concentrations of cholestanol, campesterol, sitosterol and stigmasterol were significantly higher in patients with ASD than in controls (all p ≤ 0.001), and sterol fractions were strongly correlated (cholestanol–campesterol r = 0.74, p < 0.001). In summary, no cases of CTX were identified in this cohort, suggesting that cholestanol-based screening in unselected ASD populations may have limited yield, particularly in the absence of additional clinical features suggestive of CTX. Nevertheless, the elevated plasma sterol levels in ASD patients suggest dysregulated sterol and bile acid homeostasis, warranting further investigation. The online version contains supplementary material available at 10.1007/s11011-026-01827-7.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC1 artigos no totalmostrando 200

2026

[Construction of a membrane-anchored bifunctional growth factor mimetic and its application in organoid culture].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

The Inherited Basis of Coronary Artery Disease.

The New England journal of medicine
2026

An oral nanocombinatorial agent exhibits pleiotropic improvement in diabetic nephropathy via modulation of the SCAP/SREBPs pathway.

Journal of nanobiotechnology
2026

Role of liver X receptors in the pathogenesis and treatment of chronic liver disease (Review).

Molecular medicine reports
2026

The Relationship Between Triglycerides and Coronary Artery Disease Stratified by Sex and High-Density Lipoprotein Cholesterol in Men and Women.

Diabetes/metabolism research and reviews
2026

Identification of gemilukast as a bifunctional molecule with lipid-lowering and anti-inflammatory activities.

Frontiers in immunology
2026

Statin prescription rates for prevention of atherosclerotic cardiovascular disease in adults 40-75 years old with type 1 diabetes.

BMJ open
2026

Transcriptomic Insights Into Alzheimer's Disease: Differentially Expressed Genes and Cholesterol Metabolism.

CNS neuroscience &amp; therapeutics
2025

Association of Serum Lipids with 10-Year CVD and All-Cause Mortality in Iranian Adults: A Prospective Cohort Study.

Archives of Iranian medicine
2026

Dexmedetomidine inhibits fear memory consolidation via the astrocyte-specific Srebf1-Phgdh pathway in the prelimbic prefrontal cortex.

Cell reports
2026

Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.

Metabolic brain disease
2026

Vitamin D3 as an immunomodulatory agent: molecular mechanisms, clinical translation, and precision therapeutic strategies.

Frontiers in immunology
2026

Effect of circulating exosomal miRNA-122-3p on metabolic dysfunction-associated steatotic liver disease through impairing FGFR4 expression.

Chinese medical journal
2026

Plasma ceramide Cer24:0 and insulin resistance: associations with TyG and TG/HDL-C in a multicenter study of coronary artery disease cohorts.

Frontiers in endocrinology
2026

Non-targeted metabolomics reveals metabolic signatures associated with Clostridioides difficile virulence.

Frontiers in microbiology
2026

Associations of cumulative exposure and dynamic trajectories of cholesterol-HDL-glucose (CHG) index with cardiovascular disease in middle-aged and older Chinese adults: a longitudinal analysis.

Cardiovascular diabetology
2026

Germacrone suppresses renal cancer growth by regulating c-Fos-mediated lipid metabolism.

Lipids in health and disease
2026

3'-Hydroxypterostilbene Alleviates Obesity and Lipoprotein Metabolism Dysregulation by Reshaping Gut Microbiota in High-Fat Diet-Induced Obese Mice.

Journal of agricultural and food chemistry
2026

Dysregulated Cholesterol Clearance via CYP46A1 Contributes to Cerebellar Sterol Imbalance in Mecp2-Null Mice.

International journal of molecular sciences
2026

Functional Foods as Vehicles for Bioactive Compounds: Chemical and Nutritional Perspectives on Health and Disease Prevention.

International journal of molecular sciences
2026

LDL Cholesterol Modulates Astrocyte Metabolism, Lipid Handling, and Morphology: Evidence From In Vitro and In Vivo Models.

Journal of neurochemistry
2025

[Traditional Chinese medicine improves glycolipid metabolism disorders caused by high-fat diet via regulating AMPK/FXR/TLR4 signal molecules through gut-liver axis].

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
2026

Rosemary-derived triterpene acids improve growth and lipid metabolism in juvenile grass carp (Ctenopharyngodon idella) through the gut-liver axis by tissue-specifically regulating the farnesoid X receptor.

Journal of animal science and biotechnology
2026

Endogenous calcitriol production and ionized hypercalcemia in 7 dogs with chronic dermatopathy of infectious and noninfectious etiology (2016-2024).

Journal of veterinary internal medicine
2026

Nonlinear association of residual cholesterol to high-density lipoprotein cholesterol ratio with diabetes mellitus: a retrospective cohort study.

Scientific reports
2026

Association between the atherogenic index of plasma and acute kidney injury in sepsis patients.

PloS one
2026

Extracellular vesicles related to familial hypercholesterolemia.

Archives of endocrinology and metabolism
2026

Trajectories of metabolic risk clusters and adverse outcomes in patients with chronic kidney disease: a prospective cohort study in Taiwan.

BMJ open
2026

A multi-target combinatorial therapy of MDBA alleviates atopic dermatitis via synchronized immunosuppression and barrier repair.

European journal of pharmacology
2026

Elesclomol Promotes oxLDL-Mediated Foam Cell Formation and Cuproptosis in Macrophages.

BioFactors (Oxford, England)
2026

OSBPL3-driven sterol metabolic reprogramming promotes oncogenic signaling and therapeutic resistance in pancreatic cancer.

Theranostics
2026

Case report: The first report of a family with sitosterolemia in the Polish population.

Journal of clinical lipidology
2026

Emerging role of 7-Ketocholesterol and hydroxylated 7-Ketocholesterol in the pathophysiology of disease.

The Journal of steroid biochemistry and molecular biology
2026

F-53B triggers sleep disorders via very long-chain ceramide accumulation in Drosophila neurons.

Ecotoxicology and environmental safety
2026

Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis.

Journal of inherited metabolic disease
2026

Cardiometabolic index and cardiovascular disease incidence in middle-aged and older Chinese: A nationwide prospective cohort study.

Medicine
2026

[Modern treatment of type 2 diabetes: 3 medications and 3 targets].

Praxis
2026

American Heart Association's Life's Simple 7 for cardiovascular health assessment among Iranian adults: a national cross-sectional study from STEPwise approach to non-communicable diseases risk factor surveillance (STEPS) survey 2021.

BMJ open
2026

Risk and all-cause mortality of high low-density lipoprotein cholesterol-albumin ratio level in stable coronary artery disease patients following percutaneous coronary intervention.

Frontiers in endocrinology
2026

Association of VitD 3 deficiency with thyroid nodules suspected of malignancy in petroleum workers: a retrospective cohort study.

PeerJ
2026

Daucosterol alleviates osteoarthritis by targeting chondrocyte senescence via inhibiting of the JNK pathway.

International immunopharmacology
2026

Evaluation of Urine Exosome Lecithin Cholesterol Acyltransferase as a Biomarker for Diabetes Diagnosis and Dyslipidemia.

Diabetes/metabolism research and reviews
2026

Caveolin-1 regulates cellular cholesterol homeostasis and its potential as an atherosclerosis therapy target.

The Journal of steroid biochemistry and molecular biology
2026

Impact of TyG index on coronary plaques in patients with coronary artery disease under aggressive lipid-lowering therapy.

Frontiers in endocrinology
2026

7-Ketocholesterol promotes T cell migration through Ca2+-NFATc1 pathway-mediated F-actin polymerization and proinflammatory cytokine production in oral lichen planus.

Frontiers in immunology
2026

Phellopterin from angelica dahurica is a natural antagonist of glucocorticoid receptors regulating lipid and cholesterol metabolism.

European journal of pharmacology
2026

Structure-activity relationships of steroid and sterol neuromodulators on inflammatory markers in a murine microglial cell line.

The Journal of steroid biochemistry and molecular biology
2026

FOXN3 integrates the KU70/KU80/SREBP-1 complex to regulate lipid metabolism in non-alcoholic fatty liver disease.

Nucleic acids research
2026

Computational exploration of Withania coagulans-derived natural inhibitors targeting HMG-CoA reductase: A pharmacokinetic, docking and molecular dynamics study for cholesterol regulation in Mus musculus.

Pakistan journal of pharmaceutical sciences
2026

Association between the remnant cholesterol inflammatory index and gallstone disease: A cross-sectional analysis based on NHANES 2017 to 2020.

Medicine
2026

Connecting glycation and lipotoxicity to mitochondrial dysfunction in diabetic kidney disease: A 'tubulocentric' perspective.

Biochemical and biophysical research communications
2026

Feasibility of remnant cholesterol as a therapeutic target for atherosclerotic cardio-vascular disease.

Expert opinion on therapeutic targets
2026

Zebrafish screen of schizophrenia risk genes reveals convergent dysregulation of cholesterol metabolism.

bioRxiv : the preprint server for biology
2026

The Role of Vitamin D3 in Periodontal Health: Implications for Bone Metabolism, Immune Modulation and Inflammation Control.

Nutrients
2026

An ACOT4 Multi-Nucleotide Variant Is Associated with Cardiovascular Risk in Norfolk Island and UK Biobank Cohorts.

Genes
2026

ABCA1: A Therapeutic Target for Improving Cholesterol Homeostasis in Peripheral Neuropathies.

Biomolecules
2026

Sex Differences on Social and Anxiety-Related Responses in Low-Density Lipoprotein Receptor Knockout Mice.

Molecular neurobiology
2026

Amides from Porcelia ponderosa Roots Display Efficacy In Vitro Against Intracellular Amastigotes of Trypanosoma cruzi.

Chemistry &amp; biodiversity
2026

Regulation of ABC Transporters and Ergosterol Biosynthesis by the Transcription Factor FvADS-1 Controls Azole Resistance and Virulence in Fusarium verticillioides.

Journal of fungi (Basel, Switzerland)
2026

Membrane Dysfunction as a Central Mechanism in LRRK2-Associated Parkinson's Disease: Comparative Analysis of G2019S and I1371V Variants.

Cells
2026

Deciphering the anti-atherosclerotic mechanisms of Danggui-Chuanxiong herb pair: a synergistic approach combining computational prediction and in vivo verification.

Frontiers in cardiovascular medicine
2026

Pyelonephritis decreases serum cholesterol and mitigates atherosclerosis severity despite systemic inflammation.

American journal of physiology. Heart and circulatory physiology
2026

ATF2-LPCAT1-mediated PKM2 acetylation links cholesterol stress to macrophage metabolic reprogramming and functional remodeling.

Biochemical and biophysical research communications
2026

Baitouweng Tang alleviates dextran sulfate sodium-induced ulcerative colitis in mice: a network pharmacology combined with experimental study.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2026

The cholesterol, high-density lipoprotein, and glucose (CHG) index as a novel metabolic marker for predicting adverse outcomes in myocardial infarction survivors: insights from two large prospective cohorts.

Cardiovascular diabetology
2026

Investigating the prediction potential of cholesterol, high-density lipoprotein, and glucose index surpasses TyG, AIP, and METS-IR for type 2 diabetes: a longitudinal cohort study.

Frontiers in endocrinology
2026

Sympathetic Nerve Activation Drives Cardiac Fibrosis and Arrhythmia in Lean Metabolic Dysfunction-Associated Steatohepatitis Mice Concurrently Exposed to Ethanol and a High-Fat/High-Cholesterol Diet.

Clinical and experimental pharmacology &amp; physiology
2026

Comprehensive analysis of Salvia uliginosa extract: HPLC-MS, GC-MS and evaluation of antioxidant and neuroprotective effects.

Natural product research
2026

Lecithin-cholesterol acyltransferase deficiency with the finding of "zebra bodies": A diagnostic challenge in the context of suspected Fabry disease.

Nefrologia
2026

SREBP1-driven SCD1 protects retinal pigment epithelium from oxidative damage by activating the NRF2/GPX4 axis.

Experimental eye research
2026

Evolution of triglyceride and total cholesterol levels after critical illness: Preliminary insights into post-ICU metabolic sequelae.

Journal of critical care
2026

Determinants of extracellular fluid calcium concentration in patients with chronic hypoparathyroidism.

European journal of endocrinology
2026

Age-related macular degeneration and cerebral amyloid angiopathy have similar pathologies from cholesterol-APOE-amyloid-β-complement mediated inflammation.

Progress in retinal and eye research
2026

High-cholesterol-load-triggered pyroptosis of gingival fibroblasts promotes periodontitis.

International immunopharmacology
2026

Lamin B receptor upregulation in metastatic melanoma causes nuclear envelope fragility in confined migration during cancer invasion.

Proceedings of the National Academy of Sciences of the United States of America
2026

Farrerol ameliorates hepatic insulin resistance via AMPKα1/mTOR/SREBP-1 pathway: A study in T2DM rat models and palmitic acid-induced BRL 3 A hepatocytes.

Tissue &amp; cell
2026

Explaining clinically important variability in response to simvastatin treatment using a PBPK/PD approach.

Journal of clinical pharmacology
2026

3-Hydroxystearic acid promotes cholesterol efflux and attenuates atherosclerosis via the ALKBH5/PAX-8/ABCA1 pathway.

Frontiers in immunology
2026

Vitamin D3 mediates amelioration of ulcerative colitis via the TRPV1-MAPK signaling pathway.

Frontiers in immunology
2026

Resveratrol inhibits lipid deposition via JAML/Sirt1 pathway in podocytes.

Prostaglandins &amp; other lipid mediators
2026

APOE4 induces sex-dependent synaptic mitochondrial cholesterol, proteome, and respiratory function alterations in mice.

Neurochemistry international
2026

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
2026

Regulation of flagellar architecture and metabolic pathways associated with the Leishmania mexicana SUMO protease.

Microbial pathogenesis
2026

Squalene synthase induces ERα expression via cholesterol supplementation to confer statin resistance in lung cancer cells.

Cancer cell international
2026

Hypercohin A alleviates hepatic steatosis via the mammalian target of rapamycin (mTOR)-dependent suppression of de novo lipogenesis and ferroptosis.

Phytomedicine : international journal of phytotherapy and phytopharmacology
2026

The evolving therapeutic landscape of PCSK9 inhibition.

Atherosclerosis
2026

Association of remnant cholesterol with cardiovascular events and mortality in biopsy-proven diabetic kidney disease.

Frontiers in endocrinology
2026

Composition of Human Meibomian Gland Secretions: Insights from TOF-SIMS Analysis.

International journal of molecular sciences
2026

Ectopic FGFR1 Increases Intracellular Pool of Cholesterol in Prostate Cancer Cells.

International journal of molecular sciences
2026

Hepatic UGT2B-Mediated Testosterone Clearance Promotes Lipid Accumulation in High-Fat-Diet-Induced MASLD.

Nutrients
2026

Sex Disparities in the Processes Underlying Aging: Mitochondrial DNA Copy Number Associations with Dynapenia, 25-Hydroxyvitamin D3 Levels and Quality of Life in Older Adults.

Nutrients
2026

Targeting Pathways Implicated in Cholesterol Metabolism for Novel Cancer Therapy.

Cancers
2026

lncRNA MALAT1-mediated regulation of cholesterol-oxidative stress-iron metabolic dysregulation by paeoniflorin in osteoarthritic chondrocytes.

Pharmaceutical biology
2026

Myopathy and ataxia related to impaired mitochondrial function in mevalonate kinase deficiency.

Orphanet journal of rare diseases
2026

Bis(monoacylglycero)phosphate protects murine RAW 264.7 macrophages against 7-Ketocholesterol-induced apoptosis and impaired autophagy.

The Journal of steroid biochemistry and molecular biology
2026

The predictive potential of surrogate indicators of insulin resistance for type 2 diabetic kidney disease.

Frontiers in endocrinology
2026

Residual inflammatory risk and clinical outcomes after contemporary percutaneous coronary intervention: a systematic review and meta-analysis.

Scientific reports
2026

Targeting excessive cholesterol deposition alleviates secondary lymphoedema.

Nature
2026

Taraxasterol ameliorates bone loss of ovariectomized mice via suppressing the NLRP3 inflammasome and modulating the gut microbiota.

Biochemical and biophysical research communications
2026

Efficacy of evinacumab by genotype and low-density lipoprotein receptor function in patients with homozygous familial hypercholesterolaemia: A subanalysis from the ELIPSE open-label extension study.

Atherosclerosis
2026

Amyloid β-Cholesterol Interplay: Removal of Cholesterol From the Membranes to Catalyze Aggregation and Amyloid Pathology.

Journal of neurochemistry
2026

Hypolipidemic activity of Limosilactobacillus fermentum SHY0004 from Miao sour soup.

BMC microbiology
2026

Association of remnant cholesterol inflammation index with future cardiovascular disease risk in patients with cardiovascular-kidney-metabolic syndrome stages 0-3.

Diabetes research and clinical practice
2026

Insights to HDL dysfunctionality: hypothesis of exhausted HDL.

Diabetes research and clinical practice
2026

Oxytocin Attenuates Metabolic Dysfunction-associated Steatotic Liver Disease via AMPK/SREBP1c/FAS-mediated Suppression of Hepatic Lipogenesis.

Journal of clinical and translational hepatology
2026

Evaluating the Link Between High-Density Lipoprotein-Related Inflammatory Indices and Gallstone Disease in U.S. Adults.

Mediators of inflammation
2026

Low HDL cholesterol is associated with elevated TNFR1 and TNFR2 levels in early diabetic kidney disease.

Frontiers in endocrinology
2026

Associations between neutrophil-to-high-density lipoprotein cholesterol ratio and albuminuria: A cross-sectional study.

The Journal of international medical research
2026

Cholesterol Lowering Alone Fails to Reverse Atherosclerotic Plaque Necrosis, Granulopoiesis, and Neurovascular Neutrophils in Middle-Aged Mice.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Lipidic contents within calcified plaques: Characteristics and response to LDL-C<55 mg/dL on multi-modality imaging.

Atherosclerosis
2026

Simvastatin Ameliorates Lipid Metabolism-Mediated Endothelial Inflammation and Tight Junction Impairment in Chronic Cerebral Hypoperfusion.

Neuromolecular medicine
2026

Lipid Keratopathy in Sitosterolemia: A Case Report and Review of The Ophthalmic Manifestations.

Cornea
2026

A Two Birds with One Stone Strategy: Sialic Acid-Modified Pitavastatin Liposomes for Combating Atherosclerosis and Tumors.

Molecular pharmaceutics
2026

A phenome-wide hunt for risk factors of Alzheimer's disease: from metabolic clues to neuroimaging evidence.

Journal of translational medicine
2026

Analysis of metabolic status and risk factors of small for gestational age children with catch-up growth in East China.

BMC pediatrics
2026

Unraveling the mechanistic links between blood pressure regulation and calcium-magnesium homeostasis: Insights into hypertension, hyperparathyroidism, and mineral disorders.

PloS one
2026

The Role of Testosterone in Atherosclerosis: View From Cell Cultures and Animal Models.

Journal of cardiovascular translational research
2026

Downmodulation of cholesterol biosynthetic network governs activation of the innate immune response to Japanese encephalitis virus infection.

Journal of virology
2026

Paeoniflorin Ameliorates Metabolic Dysfunction-Associated Steatotic Liver Disease by SYK/SH3BP2 Signaling Pathway.

Research (Washington, D.C.)
2026

Therapeutic effects of vitamin D and intermittent fasting on metabolic associated steatotic liver disease in rats.

Scientific reports
2026

Gut microbiota-dependent 24-hydroxycholesterol metabolism contributes to capsaicin-induced amelioration of Alzheimer's disease-like pathology in mice.

Nature communications
2026

Liver specific-inhibition of LPCAT3 ameliorates metabolic dysfunction-associated steatotic liver disease.

Journal of molecular medicine (Berlin, Germany)
2026

Association between ketogenic diet and cognitive function in older adults: The mediating role of neutrophil to high-density lipoprotein cholesterol ratio.

Medicine
2026

Malassezia globosa lipidome: The dynamics of uptake and secreted lipids.

Virulence
2026

A novel exopolysaccharide from Lactiplantibacillus plantarum H6 improves cholesterol metabolism via Muribaculum-mediated activation of the enterohepatic FXR-FGF15 axis.

Gut microbes
2026

Ganoderic Acid A alleviates ulcerative colitis by inhibiting the interleukin17 signaling pathway via targeting retinoic acid-related orphan receptor alpha.

Journal of ethnopharmacology
2026

GC-MS correlated-antiepileptic screening for probable GABA-modulator by PTZ-induced acute seizure model in Swiss albino mice and phytochemical profiling of ethanol extract of Ficus benghalensis.

Pakistan journal of pharmaceutical sciences
2026

A genome-wide association meta-analysis of cholesterol synthesis intermediates identifies three associations for lanosterol.

EBioMedicine
2026

Effects of the FXR agonist GW4064 on metabolic disorders in db/db mice.

Laboratory animal research
2026

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX.

Orphanet journal of rare diseases
2026

LCA and 3-oxo-LCA mitigate dietary oxysterols-induced loss of barrier function in intestinal epithelial cells.

Steroids
2026

Cenobamate beyond Epilepsy: exploring associations with vascular risk factors through serological markers.

Epilepsy &amp; behavior : E&amp;B
2025

Unraveling cholesterol metabolism in multiple sclerosis: Gender-specific patterns and predictive biomarkers.

Neurobiology of disease
2026

The MALDI Method to Analyze the Lipid Profile, Including Cholesterol, Triglycerides and Other Lipids.

Current issues in molecular biology
2026

Engineered macrophage-assisted atorvastatin nanotherapy for reversing foam cell formation in atherosclerosis.

Journal of materials chemistry. B
2026

Multiphasic Venture of Cholesterol Homeostasis: A Perspective on Statin Therapy.

Journal of biochemical and molecular toxicology
2026

LncRNA TUG1 promotes hepatic lipid accumulation by targeting the miR-29a-3p/SREBP-2/HMGCR axis in MAFLD.

Functional &amp; integrative genomics
2025

Computational insights into oxysterols: MD and DFT applications in pharmaceutical research.

Folia medica Cracoviensia
2026

Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.

Journal of medical case reports
2026

Ganoderic Acid A Modulates Enteric Neurons and Intestinal Homeostasis in Irritable Bowel Syndrome by Microbiota Sensing.

Journal of agricultural and food chemistry
2026

Structure and mechanism of the human bile acid transporter OSTα-OSTβ.

Nature
2026

Loss of hepaCAM inhibits cholesterol biosynthesis and impairs learning and memory in mice.

Brain research
2026

The association between high-density lipoprotein cholesterol and depressive symptoms: The moderating role of inflammation.

Journal of affective disorders
2025

Fenofibrate suppresses Mycoplasma bovis infection via autophagy-mediated cholesterol regulation in bovine mammary epithelial cells and murine mammary tissue.

Frontiers in cellular and infection microbiology
2026

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.

Nutrients
2026

Econazole Exhibits In Vitro and In Vivo Efficacy Against Leishmania amazonensis.

Pharmaceuticals (Basel, Switzerland)
2026

Enhanced Qualities of High-Density Lipoproteins (HDLs) with Antioxidant Abilities Are Associated with Lower Susceptibility of Hypertension in Middle-Aged Korean Participants: Impaired HDL Quality and Hypertension Risk.

International journal of molecular sciences
2026

Ferulic Acid Attenuates Heat Stress-Induced Hepatic and Intestinal Oxidative Stress and Cholesterol Metabolism Dysregulation in Juvenile Blunt Snout Bream (Megalobrama amblycephala).

International journal of molecular sciences
2026

Cholesterol Metabolism: An Ally in the Development and Progression of Cervical Cancer.

International journal of molecular sciences
2026

Very-Low-Density Lipoproteins Quantity but Not Composition Is Altered in Normotriglyceridemic Subjects with Elevated Lipoprotein (a) Level.

International journal of molecular sciences
2026

Complex I Modulator BI4500 Reduces MASH by Limiting Oxidative Stress and Reprogramming Lipid Metabolism via AMPK in MCD Rats.

Antioxidants (Basel, Switzerland)
2026

Multi-Omics Analysis Identifies the Key Defence Pathways in Chinese Cabbage Responding to Black Spot Disease.

Genes
2026

Lifelong cGAS deficiency leads to altered lipid storage and cholesterol homeostasis.

Biological research
2026

Development of a standardized murine model for investigating cholesterol crystallization and deposition in the gallbladder wall: effects of dietary cholesterol and pharmacological modulation.

European journal of medical research
2026

Heteroduplex oligonucleotide technology boosts gene knockdown in cardiac and skeletal muscles.

Nucleic acids research
2026

E2F1-driven cholesterol synthesis via the SND1/ACLY axis potentiates malignant progression in prostate cancer.

Epigenomics
2026

ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.

Circulation. Genomic and precision medicine
2026

Role of Mitochondrial Protein, mitoNEET, in Impaired Intracellular Cholesterol Metabolism-Induced Neuronal Cell Death.

Biological &amp; pharmaceutical bulletin
2026

Hepatic management of toxic sterols after acute deletion of Cyp51 from cholesterol synthesis.

The Journal of biological chemistry
2026

Immune-metabolic dysregulation and suicide risk in adolescents with major depressive disorder: a cross-sectional study.

BMC psychiatry
2026

TREM2 expression level is critical for microglial state, metabolic capacity and efficacy of TREM2 agonism.

Nature communications
2026

Natural polyketide enterocin inhibits ASGR1 to enhance cholesterol efflux and regulate hepatic lipid metabolism.

Metabolism: clinical and experimental
2026

MicroRNA-96 inhibition retarded the progression of atherosclerotic plaques via FOXO1/CYP7A1 mediated cholesterol-bile acid metabolism pathway.

Expert opinion on therapeutic targets
2026

Development and validation of a logistic regression model for predicting menstrual irregularity using LDL-C and age in reproductive-aged women: An analysis of NHANES Data.

Medicine
2026

The many faces of cholesterol in autosomal dominant polycystic kidney disease.

Kidney international
2026

Molecular mechanisms of Aflatoxin B1-Induced renal injury and the detoxification potential of Taraxasterol: A review.

Chemico-biological interactions
2026

Autophagy in lipid metabolism.

Advances in clinical chemistry
2026

Insights into the Destabilizing Effect of Fluorinated Ethanol on Biomimetic Membranes.

The journal of physical chemistry. B
2026

Different response of plaque regression following achievement of LDL-C <1.8 mmol/L in obese and nonobese patients with diabetes and coronary artery disease: OPTIMAL sub-analysis.

Journal of clinical lipidology
2026

SREBP1-mediated lipid metabolism reprogramming drives malignant progression and therapeutic resistance in HPSCC organoids and animal models.

Biomaterials science
2026

Stigmasterol Glucoside, a Phytosterol Glycoside, Mitigates Systemic Inflammatory Response Syndrome and Liver Injury.

Phytotherapy research : PTR
2026

Role of Oxysterol-Binding Protein Family in Cholesterol Metabolism and Cancer Progression: A Review.

Medical science monitor : international medical journal of experimental and clinical research
2026

Gut microbiota, lipid metabolism, and PCOS: A Mendelian randomization and mediation analysis.

Medicine
2026

Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.

Journal of clinical lipidology
2026

Metabolic activation of lumisterol to biologically active metabolites and their mechanism of action.

Biochemical pharmacology
2026

Synthesis of benzo[e][1,2,4]thiadiazine 1,1-dioxide derivatives and its potential applications in atherosclerosis.

Bioorganic &amp; medicinal chemistry letters
2026

Ultrabright Carbon Dots as an Emerging Fluorescent Probe for Multivalent Labeling and Highly Sensitive Detection of Extracellular Vesicles.

ACS applied materials &amp; interfaces
2026

Daucosterol Targets PFKFB3 to Mitigates Sepsis-Induced Acute Lung Injury by Inhibiting Glycolysis and M1 Macrophage Polarization.

Chemical biology &amp; drug design
2026

Effect of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibitors on Lipoprotein(a) Levels: An Umbrella Review of Meta-analyses of Randomized Controlled Trials.

Drugs
2026

Causal relationships of lipid metabolism in diabetic nephropathy risk: A two-sample Mendelian randomization study.

Nutrition, metabolism, and cardiovascular diseases : NMCD
2026

Endothelial JMJD1C drives pathological ocular neovascularization by activating SREBF2-dependent cholesterol biosynthesis.

Free radical biology &amp; medicine
2026

A new type of lipid nanoparticles with sphingomyelin-induced active lipid raft structures for improved mRNA cellular uptake.

Journal of controlled release : official journal of the Controlled Release Society
2026

Determinants of circulating PCSK9 levels and the efficacy of PCSK9 inhibitor therapies in chronic kidney disease: a systematic review.

European journal of clinical pharmacology
2026

An oral, liver-restricted LXR inverse agonist for dyslipidemia: preclinical development and phase 1 trial.

Nature medicine
2026

Precision approach in apoA-I infusion trials: When CSL112 may actually work.

Journal of clinical lipidology
2026

Skeletal Muscle Mass Modifies the Prognostic Impact of LDL Cholesterol in Chronic Heart Failure.

Journal of cachexia, sarcopenia and muscle
2026

Fueling Disease: ACSS2 in Obesity-Associated Metabolic Disorders and Cancer Progression.

Obesity reviews : an official journal of the International Association for the Study of Obesity
2026

Antisense oligonucleotide targeting TARDBP-EGFR splicing axis inhibits progression of oral squamous cell carcinoma through ABCA1-regulated cholesterol efflux.

International journal of oral science
2026

Sitosterolemia Presenting as Lipid Keratopathy and Xanthomas.

Pediatrics
2026

The metabolic mood: Cholesterol homeostasis as a convergence point for depression risk.

Developmental cell
2026

Cholesterol Deficiency Directs Autophagy-Dependent Secretion of Extracellular Vesicles.

Journal of extracellular vesicles
2026

Cholesterol-lowering effects of oats induced by microbially produced phenolic metabolites in metabolic syndrome: a randomized controlled trial.

Nature communications
2026

Lipid-Lowering Therapies in Patients with Chronic Kidney Disease: A Perspective on High-Density Lipoprotein Cholesterol.

Drugs
2026

Low-dose galactose rebalances HBP-mTORC1-SREBP-1c signaling to suppress hepatic lipogenesis and protect against early-stage alcohol-related liver disease.

American journal of physiology. Gastrointestinal and liver physiology
2026

Novel metabolic syndrome subgroups and their association with cardiovascular outcomes: A data-driven cluster analysis of the UK Biobank.

Diabetes, obesity &amp; metabolism
2026

INSIG1 parallel substitution drives lipid/sterol metabolic plasticity mediating desert adaptation in ungulates.

Communications biology
2026

Hematological, biochemical and hormonal profiles in dogs with obesity-related metabolic disorder.

The Journal of veterinary medical science
2026

Myeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression.

PloS one
2026

Hepatocyte SAMHD1 Deficiency Attenuates Hepatic Steatosis via Suppression of SREBP Activation in a Mouse Model of Metabolic-Associated Steatotic Liver Disease.

International journal of biological sciences
2026

Predictive value of remnant cholesterol inflammatory index for cardiovascular-kidney-metabolic syndrome progression: A prospective cohort study.

Experimental gerontology

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Doenças relacionadas

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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. The Inherited Basis of Coronary Artery Disease.
    The New England journal of medicine· 2026· PMID 41870454mais citado
  2. Statin prescription rates for prevention of atherosclerotic cardiovascular disease in adults 40-75 years old with type 1 diabetes.
    BMJ open· 2026· PMID 41857831mais citado
  3. Transcriptomic Insights Into Alzheimer's Disease: Differentially Expressed Genes and Cholesterol Metabolism.
    CNS neuroscience &amp; therapeutics· 2026· PMID 41854441mais citado
  4. Dexmedetomidine inhibits fear memory consolidation via the astrocyte-specific Srebf1-Phgdh pathway in the prelimbic prefrontal cortex.
    Cell reports· 2026· PMID 41849348mais citado
  5. Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.
    Metabolic brain disease· 2026· PMID 41848945mais citado
  6. Coumarin derivatives as new chemotype targeting leishmanial sterol biosynthesis pathway proteins: an integrated in vitro, mechanistic, and in silico evaluation.
    World J Microbiol Biotechnol· 2026· PMID 41991740recente
  7. Sterol pathway disruption in pregnancy: a link to autism.
    Mol Psychiatry· 2026· PMID 41991716recente
  8. Sterol Endoperoxides and Their Antileishmanial Effects: Influence on Viability, Oxygen Metabolism and Sterol Synthesis.
    Molecules· 2026· PMID 41900078recente
  9. Transcriptomic Insights into Sre1-Related Regulatory Responses to Hypoxia, Cobalt Chloride, and Clotrimazole in Phaffia rhodozyma.
    J Fungi (Basel)· 2026· PMID 41893132recente
  10. A sterol reductase responsible for the unusual 8(14)-unsaturation in bacterial sterol production and degradation.
    bioRxiv· 2026· PMID 41867781recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79195(Orphanet)
  2. MONDO:0019240(MONDO)
  3. GARD:18969(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55788560(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.

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Doença da biossíntese dos esteróis

ORPHA:79195 · MONDO:0019240
MedGen
UMLS
C5681287
EuropePMC
Wikidata
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