Raras
Buscar doenças, sintomas, genes...
Doença do transportador de substrato mitocondrial
ORPHA:254830CID-11 · 5C53.30DOENÇA RARA

A acidúria combinada malônica e metilmalônica (CMAMMA), também chamada de acidemia malônica e metilmalônica combinada, é uma doença metabólica hereditária caracterizada por níveis elevados de ácido malônico e ácido metilmalônico. No entanto, os níveis de ácido metilmalónico excedem os de ácido malónico. A CMAMMA não é apenas uma acidúria orgânica, mas também um defeito da síntese mitocondrial de ácidos gordos (mtFASII). Alguns pesquisadores colocaram a hipótese de que o CMAMMA pode ser uma das formas mais comuns de acidemia metilmalônica e possivelmente um dos erros congénitos mais comuns do metabolismo. Devido ao facto de ser diagnosticado com pouca frequência, na maioria das vezes não é detectado.

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Introdução

O que você precisa saber de cara

📋

Doença rara que afeta o transporte de substratos para as mitocôndrias, causando hepatoesplenomegalia, distrofia corneana, déficits de crescimento e problemas cardíacos/respiratórios. Associada a mutações em genes como SLC25A3 e TKFC.

Publicações científicas
3 artigos
Último publicado: 2021 Sep 25
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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

🧠
Neurológico
19 sintomas
💪
Músculos
9 sintomas
👁️
Olhos
8 sintomas
🫃
Digestivo
7 sintomas
❤️
Coração
6 sintomas
🫁
Pulmão
5 sintomas

+ 39 sintomas em outras categorias

Características mais comuns

Hepatoesplenomegalia
Distrofia corneana
Eletroretinograma anormal
Déficit de crescimento
Morfologia anormal da mitocôndria
Desconforto respiratório
107sintomas
Sem dados (107)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 107 características clínicas mais associadas, ordenadas por frequência.

HepatoesplenomegaliaHepatosplenomegaly
Distrofia corneanaCorneal dystrophy
Eletroretinograma anormalAbnormal electroretinogram
Déficit de crescimentoFailure to thrive
Morfologia anormal da mitocôndriaAbnormality of the mitochondrion

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Total histórico3PubMed
Últimos 10 anos92publicações
Pico202211 papers
Linha do tempo
20202015Hoje · 2026📈 2022Ano de pico
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.

SLC25A3Solute carrier family 25 member 3Disease-causing germline mutation(s) inRestrito
FUNÇÃO

Inorganic ion transporter that transports phosphate or copper ions across the mitochondrial inner membrane into the matrix compartment (By similarity) (PubMed:17273968, PubMed:29237729). Mediates proton-coupled symport of phosphate ions necessary for mitochondrial oxidative phosphorylation of ADP to ATP (By similarity) (PubMed:17273968). Transports copper ions probably in the form of anionic copper(I) complexes to maintain mitochondrial matrix copper pool and to supply copper for cytochrome C ox

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (1)
Mitochondrial iron-sulfur cluster biogenesis
MECANISMO DE DOENÇA

Mitochondrial phosphate carrier deficiency

An autosomal recessive disorder of oxidative phosphorylation. Patients have lactic acidosis, hypertrophic cardiomyopathy and muscular hypotonia and die within the first year of life.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
211.3 TPM
Coração - Ventrículo esquerdo
192.9 TPM
Linfócitos
171.1 TPM
Músculo esquelético
169.3 TPM
Glândula adrenal
164.3 TPM
OUTRAS DOENÇAS (1)
cardiomyopathy-hypotonia-lactic acidosis syndrome
HGNC:10989UniProt:Q00325
TKFCTriokinase/FMN cyclaseCandidate gene tested inTolerante
FUNÇÃO

Catalyzes both the phosphorylation of dihydroxyacetone and of glyceraldehyde, and the splitting of ribonucleoside diphosphate-X compounds among which FAD is the best substrate. Represses IFIH1-mediated cellular antiviral response (PubMed:17600090)

LOCALIZAÇÃO

VIAS BIOLÓGICAS (4)
DDX58/IFIH1-mediated induction of interferon-alpha/betaSARS-CoV-2 activates/modulates innate and adaptive immune responsesSARS-CoV-1 activates/modulates innate immune responsesFructose catabolism
MECANISMO DE DOENÇA

Triokinase and FMN cyclase deficiency syndrome

An autosomal recessive disease characterized by cataracts and developmental delay that may be associated with cerebellar hypoplasia. Additional features may include liver dysfunction, microcytic anemia, and fatal cardiomyopathy with lactic acidosis following a febrile illness.

EXPRESSÃO TECIDUAL(Ubíquo)
Glândula adrenal
87.4 TPM
Intestino delgado
50.0 TPM
Testículo
43.6 TPM
Fígado
40.1 TPM
Linfócitos
29.6 TPM
OUTRAS DOENÇAS (2)
triokinase and FMN cyclase deficiency syndromeSengers syndrome
HGNC:24552UniProt:Q3LXA3
SLC25A4ADP/ATP translocase 1Candidate gene tested inModerado
FUNÇÃO

ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (PubMed:21586654, PubMed:27693233, PubMed:23173940, PubMed:30046662). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By si

LOCALIZAÇÃO

Mitochondrion inner membraneMembrane

VIAS BIOLÓGICAS (1)
Mitochondrial protein import
MECANISMO DE DOENÇA

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2

A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.

EXPRESSÃO TECIDUAL(Ubíquo)
Coração - Ventrículo esquerdo
563.9 TPM
Coração - Átrio
428.0 TPM
Músculo esquelético
370.5 TPM
Cérebro - Hemisfério cerebelar
138.9 TPM
Esôfago - Muscular
110.1 TPM
OUTRAS DOENÇAS (5)
mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessivemitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominantprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2autosomal dominant progressive external ophthalmoplegia
HGNC:10990UniProt:P12235
AGKAcylglycerol kinase, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively (PubMed:15939762). Does not phosphorylate sphingosine (PubMed:15939762). Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (PubMed:28712724, PubMed:28712726). The TIM22 complex m

LOCALIZAÇÃO

Mitochondrion inner membraneMitochondrion intermembrane space

VIAS BIOLÓGICAS (1)
Glycerophospholipid biosynthesis
MECANISMO DE DOENÇA

Mitochondrial DNA depletion syndrome 10

An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy.

OUTRAS DOENÇAS (3)
cataract 38Sengers syndrometotal early-onset cataract
HGNC:21869UniProt:Q53H12
GLRX5Glutaredoxin-related protein 5, mitochondrialDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:20364084, PubMed:23615440). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion (PubMed:20364084, PubMed:23615440, PubMed:24334290). Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (PubMed:20364084)

LOCALIZAÇÃO

Mitochondrion matrix

VIAS BIOLÓGICAS (1)
Mitochondrial iron-sulfur cluster biogenesis
MECANISMO DE DOENÇA

Anemia, sideroblastic, 3, pyridoxine-refractory

A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
65.0 TPM
Glândula adrenal
55.8 TPM
Músculo esquelético
48.2 TPM
Ovário
43.3 TPM
Rim - Medula
42.5 TPM
OUTRAS DOENÇAS (2)
spasticity-ataxia-gait anomalies syndromesideroblastic anemia 3
HGNC:20134UniProt:Q86SX6
SLC25A26Mitochondrial S-adenosylmethionine carrier proteinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Mitochondrial S-adenosyl-L-methionine/S-adenosyl-L-homocysteine antiporter. Mediates the exchange of cytosolic S-adenosyl-L-methionine, the predominant methyl-group donor for macromolecule methylation processes, for mitochondrial S-adenosylhomocysteine(SAH), a by-product of methylation reactions

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (1)
SLC-mediated transport of organic cations
MECANISMO DE DOENÇA

Combined oxidative phosphorylation deficiency 28

An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death.

EXPRESSÃO TECIDUAL(Ubíquo)
Tireoide
12.1 TPM
Ovário
12.1 TPM
Artéria tibial
12.0 TPM
Skin Sun Exposed Lower leg
12.0 TPM
Cólon sigmoide
11.8 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (1)
combined oxidative phosphorylation deficiency 28
HGNC:20661UniProt:Q70HW3
SLC25A12Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrialDisease-causing germline mutation(s) inRestrito
FUNÇÃO

Mitochondrial electrogenic aspartate/glutamate antiporter that favors efflux of aspartate and entry of glutamate and proton within the mitochondria as part of the malate-aspartate shuttle (PubMed:11566871, PubMed:19641205, PubMed:24515575, PubMed:38945283). Also mediates the uptake of L-cysteinesulfinate (3-sulfino-L-alanine) by mitochondria in exchange of L-glutamate and proton (PubMed:11566871). Can also exchange L-cysteinesulfinate with aspartate in their anionic form without any proton trans

LOCALIZAÇÃO

Mitochondrion inner membrane

VIAS BIOLÓGICAS (2)
Aspartate and asparagine metabolismMalate-aspartate shuttle
MECANISMO DE DOENÇA

Developmental and epileptic encephalopathy 39 with leukodystrophy

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive.

EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
70.2 TPM
Cérebro - Hemisfério cerebelar
57.9 TPM
Esôfago - Muscular
47.6 TPM
Cerebelo
46.4 TPM
Brain Frontal Cortex BA9
46.4 TPM
OUTRAS DOENÇAS (1)
developmental and epileptic encephalopathy, 39
HGNC:10982UniProt:O75746

Variantes genéticas (ClinVar)

195 variantes patogênicas registradas no ClinVar.

🧬 SLC25A3: NM_002635.4(SLC25A3):c.562C>T (p.Arg188Ter) ()
🧬 SLC25A3: NM_005888.4(SLC25A3):c.158-1_164del ()
🧬 SLC25A3: NM_002635.4(SLC25A3):c.5_14del (p.Phe2fs) ()
🧬 SLC25A3: NM_002635.4(SLC25A3):c.358A>G (p.Lys120Glu) ()
🧬 SLC25A3: NC_000012.11:g.(?_98987757)_(98989355_?)del ()
Ver todas no ClinVar

Diagnóstico

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Onde tratar no SUS

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Structural transport and inhibition mechanism of the mitochondrial pyruvate carrier.

Trends in biochemical sciences2026 Feb

The mitochondrial pyruvate carrier (MPC), of the SLC54 family of solute carriers, has a critical role in eukaryotic energy metabolism by transporting pyruvate, the end-product of glycolysis, into the mitochondrial matrix. Recently, structures of the human MPC1/MPC2 and MPC1L/MPC2 heterodimers in the outward-open, occluded, and inward-open states have been determined by cryo-electron microscopy (cryo-EM) and by AlphaFold modeling. In this review we discuss the membrane orientation, substrate binding site properties, and structural features of the alternating access mechanism of the carrier, as well as the binding poses of three chemically distinct inhibitor classes, which exploit the same binding site in the outward-open state. These structural studies will support drug development efforts for the treatment of diabetes mellitus, neurodegeneration, metabolic dysfunction-associated steatotic liver disease (MASLD), and some types of cancers.

#2

Rationally engineered cyclodextrins: smart shuttles for neurological drug targeting and BBB modulation.

Bioorganic chemistry2026 Jan

The pathophysiology of neurodegenerative disorders during therapeutic intervention presents significant challenges, largely stemming from the selective permeability of blood-brain barrier (BBB), limited drug solubility, and idiosyncratic pharmacodynamic interactions. This inherent impermeability of the BBB to conventional xenobiotics/drugs significantly impedes their neurotherapeutic efficacy by restricting access to critical neural substrates. Cyclodextrins (CDs), a class of cyclic oligosaccharides with α-(1,4)-linked glucopyranose units, have emerged as innovative drug delivery vectors capable of addressing these limitations. Their unique toroidal supramolecular architecture, distinguished by a hydrophobic central cavity and a hydrophilic external surface, facilitates the formation of stable inclusion complexes with lipophilic pharmacophores, thereby enhancing their aqueous solubility and improving pharmacokinetic parameters. It also exhibits potent cholesterol-sequestering capabilities, exerting neuroprotective effects through modulation of membrane lipid homeostasis, upregulation of autophagic flux, and optimization of mitochondrial bioenergetics in neural tissue. The present review succinctly elucidates the nuanced mechanistic intricacies of contemporary CD-based drug delivery systems in traversing the BBB, augmenting targeted drug biodistribution, and modulating protein-lipid interactions at the molecular level, offering a novel therapeutic paradigm for an array of neurodegenerative pathologies. Emphasis is placed on elucidating the mechanism of drug encapsulation and release from CD-drug conjugates, their interactions with membrane lipids and efflux transporters, and their potential to modulate neuroinflammatory cascades and protein aggregation process.

#3

Nanoscale conformational dynamics of human propionyl-CoA carboxylase.

Structure (London, England : 1993)2026 Jan 08

Propionyl-CoA carboxylase (PCC) is a biotin-dependent mitochondrial enzyme responsible for propionyl-CoA catabolism. Deficiencies in human PCC (hPCC) cause propionic acidemia, a severe metabolic disorder driven by toxic metabolite accumulation. Despite its therapeutic relevance, the structural basis of hPCC's catalytic function remains unresolved. Here, we present high-resolution cryo-EM structures of hPCC in four distinct states, unliganded, ADP-, AMPPNP-, and ATP-bound/substrate-bound, capturing the full trajectory of the biotin carboxyl carrier protein (BCCP) domain as it translocates between active sites. Our results reinforce the crucial role of nucleotide-gated B-lid subdomain in synchronizing catalysis through coupling with BCCP movement. Structural and biochemical analysis of 10 disease-associated variants reveals how mutations disrupt key domain interfaces and dynamic motions required for activity. These new insights define the mechanistic principles governing hPCC functions, establish a structural framework for understanding PCC-related disorders, and lay the groundwork for future efforts to engineer functional replacements or modulators for metabolic therapy.

#4

A repurposed AMP binding domain reveals mitochondrial protein AMPylation as a regulator of cellular metabolism.

Nature communications2025 Aug 23

Protein AMPylation, the covalent addition of adenosine monophosphate (AMP) to protein substrates, has been known as a post translational modification for over 50 years. Research in this field is largely underdeveloped due to the lack of tools that enable the systematic identification of AMPylated substrates. Here, we address this gap by developing an enrichment technique to isolate and study AMPylated proteins using a nucleotide-binding protein, hinT. Cryo-EM reconstruction of an AMPylated protein bound to hinT provides a structural basis for AMP selectivity. Using structure guided mutagenesis, we optimize enrichment to identify novel substrates of the evolutionarily conserved AMPylase, Selenoprotein O. We show that mammalian Selenoprotein O regulates metabolic flux through AMPylation of key mitochondrial proteins including glutamate dehydrogenase and pyruvate dehydrogenase. Our findings highlight the broader significance of AMPylation, an emerging post translational modification with critical roles in signal transduction and disease pathology. Furthermore, we establish a powerful enrichment platform for the discovery of novel AMPylated proteins to study the mechanisms and significance of protein AMPylation in cellular function.

#5

SIRT3 deficiency aggravates mitochondrial metabolic disorder and podocyte injury in DKD via MPC2 acetylation.

Cellular signalling2025 Nov

Diabetic kidney disease (DKD) is a chronic disease characterized by high prevalence and mortality rates. Podocyte injury and mitochondrial metabolic disorder are crucial in its progression. Sirtuin3 (SIRT3), a mitochondrial NAD+-dependent deacetylase, exerts renoprotective effects in various kidney pathologies by modulating the acetylation status and activity of energy metabolism related substrates. However, its specific roles in podocytes homeostasis during DKD progression remain unclear. We previously reported the role and acetylation level of mitochondrial pyruvate carrier 2 (MPC2) in DKD, but the regulatory mechanism between SIRT3 and MPC2 has not been elucidated. This study aims to investigate the effect of SIRT3 on mitochondrial reprogramming in podocytes and explore the association between SIRT3 and MPC2 during DKD progression. SIRT3 expression was downregulated in hyperglycemia-induced podocytes in vivo and in vitro. SIRT3 deficiency aggravated podocyte apoptosis and mitochondrial homeostasis dysregulation, as evidenced by increased ROS production, decreased mitochondrial membrane potential and diminished ATP level. However, the overexpression of SIRT3 alleviated these alterations. In addition, we identified a binding interaction between SIRT3 and MPC2. SIRT3 deacetylated MPC2 at lysine K19/K27, mechanistically implicated in the podocyte injury in the process of DKD. This study validated that hyperglycemia-induced SIRT3-mediated MPC2 acetylation contributes to mitochondrial dysfunction and cellular apoptosis.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 92

2026

Rationally engineered cyclodextrins: smart shuttles for neurological drug targeting and BBB modulation.

Bioorganic chemistry
2026

Structural transport and inhibition mechanism of the mitochondrial pyruvate carrier.

Trends in biochemical sciences
2025

ADIPOQ regulates lipid metabolism by activating AMPK/CPT-1 pathway to attenuate the proliferation of psoriasis lesions.

Scientific reports
2026

Nanoscale conformational dynamics of human propionyl-CoA carboxylase.

Structure (London, England : 1993)
2025

A repurposed AMP binding domain reveals mitochondrial protein AMPylation as a regulator of cellular metabolism.

Nature communications
2025

SIRT3 deficiency aggravates mitochondrial metabolic disorder and podocyte injury in DKD via MPC2 acetylation.

Cellular signalling
2025

Update of the sideroflexin (SLC56) gene family.

Human genomics
2025

LONP1 facilitates pulmonary artery smooth muscle cell glycolytic reprogramming by degrading MPC1 in pulmonary hypertension.

Clinical science (London, England : 1979)
2025

Glyceraldehyde-3-phosphate dehydrogenase/1,3-bisphosphoglycerate-NADH as key determinants in controlling human retinal endothelial cellular functions: Insights from glycolytic screening.

The Journal of biological chemistry
2025

Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency.

Journal of inherited metabolic disease
2025

Structure of human PINK1 at a mitochondrial TOM-VDAC array.

Science (New York, N.Y.)
2025

The Role of Solute Carrier Family Transporters in Hepatic Steatosis and Hepatic Fibrosis.

Journal of clinical and translational hepatology
2024

PINK1 controls RTN3L-mediated ER autophagy by regulating peripheral tubule junctions.

The Journal of cell biology
2025

A hierarchical hepatic de novo lipogenesis substrate supply network utilizing pyruvate, acetate, and ketones.

Cell metabolism
2024

Distinct roles for the domains of the mitochondrial aspartate/glutamate carrier citrin in organellar localization and substrate transport.

Molecular metabolism
2024

Metabolic cycles: A unifying concept for energy transfer in the heart.

Journal of molecular and cellular cardiology
2024

Metabolic gene function discovery platform GeneMAP identifies SLC25A48 as necessary for mitochondrial choline import.

Nature genetics
2024

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.

Cell
2024

DMT1 ubiquitination by Nedd4 protects against ferroptosis after intracerebral hemorrhage.

CNS neuroscience & therapeutics
2024

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
2024

Identification of novel tail-anchored membrane proteins integrated by the bacterial twin-arginine translocase.

Microbiology (Reading, England)
2024

AMPK phosphorylation of FNIP1 (S220) controls mitochondrial function and muscle fuel utilization during exercise.

Science advances
2024

Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.

PloS one
2023

Changes in Plasma Pyruvate and TCA Cycle Metabolites upon Increased Hepatic Fatty Acid Oxidation and Ketogenesis in Male Wistar Rats.

International journal of molecular sciences
2023

Ketone body β-hydroxybutyrate (BHB) preserves mitochondrial bioenergetics.

Scientific reports
2024

Brown fat thermogenesis and branched-chain amino acids in metabolic disease.

Endocrine journal
2023

BDNF-loaded PDADMAC-heparin multilayers: a novel approach for neuroblastoma cell study.

Scientific reports
2023

A Msp1-containing complex removes orphaned proteins in the mitochondrial outer membrane of T. brucei.

Life science alliance
2023

Aspartate-glutamate carrier 2 (citrin): a role in glucose and amino acid metabolism in the liver.

BMB reports
2023

Mitochondrial protein import clogging as a mechanism of disease.

eLife
2022

Lipid Peroxidation and Iron Metabolism: Two Corner Stones in the Homeostasis Control of Ferroptosis.

International journal of molecular sciences
2022

Reverse and Forward Electron Flow-Induced H2O2 Formation Is Decreased in α-Ketoglutarate Dehydrogenase (α-KGDH) Subunit (E2 or E3) Heterozygote Knock Out Animals.

Antioxidants (Basel, Switzerland)
2022

Lipoate protein ligase B primarily recognizes the C8-phosphopantetheine arm of its donor substrate and weakly binds the acyl carrier protein.

The Journal of biological chemistry
2022

Activating ligands of Uncoupling protein 1 identified by rapid membrane protein thermostability shift analysis.

Molecular metabolism
2022

Novel targets for ameliorating energy metabolism disorders in depression through stable isotope-resolved metabolomics.

Biochimica et biophysica acta. Bioenergetics
2022

Mechanistic insights into multiple-step transport of mitochondrial ADP/ATP carrier.

Computational and structural biotechnology journal
2022

Glucocerebrosidase Mutations Cause Mitochondrial and Lysosomal Dysfunction in Parkinson's Disease: Pathogenesis and Therapeutic Implications.

Frontiers in aging neuroscience
2022

Legionella pneumophila modulates host energy metabolism by ADP-ribosylation of ADP/ATP translocases.

eLife
2022

Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency.

Journal of inherited metabolic disease
2022

Mitochondrial H+ Leak and Thermogenesis.

Annual review of physiology
2021

Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS.

International journal of molecular sciences
2022

Small Molecule Regulators Targeting NAD+ Biosynthetic Enzymes.

Current medicinal chemistry
2021

A novel remitting leukodystrophy associated with a variant in FBP2.

Brain communications
2021

Mitochondrial Pyruvate Carrier Subunits Are Essential for Pyruvate-Driven Respiration, Infectivity, and Intracellular Replication of Trypanosoma cruzi.

mBio
2020

Sequence Features of Mitochondrial Transporter Protein Families.

Biomolecules
2020

A Single Cysteine Residue in the Translocation Pathway of the Mitosomal ADP/ATP Carrier from Cryptosporidium parvum Confers a Broad Nucleotide Specificity.

International journal of molecular sciences
2020

The Discovery of Highly Potent THP Derivatives as OCTN2 Inhibitors: From Structure-Based Virtual Screening to In Vivo Biological Activity.

International journal of molecular sciences
2020

Aldehyde Dehydrogenase 2 Ameliorates Chronic Alcohol Consumption-Induced Atrial Fibrillation through Detoxification of 4-HNE.

International journal of molecular sciences
2020

Bioenergetic Impairment of Triethylene Glycol Dimethacrylate- (TEGDMA-) Treated Dental Pulp Stem Cells (DPSCs) and Isolated Brain Mitochondria are Amended by Redox Compound Methylene Blue †.

Materials (Basel, Switzerland)
2021

Mitochondrial Fatty Acids and Neurodegenerative Disorders.

The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry
2020

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Biomolecules
2020

A highly responsive pyruvate sensor reveals pathway-regulatory role of the mitochondrial pyruvate carrier MPC.

eLife
2020

Fatty Acid Oxidation and Mitochondrial Morphology Changes as Key Modulators of the Affinity for ADP in Rat Heart Mitochondria.

Cells
2020

APOE alters glucose flux through central carbon pathways in astrocytes.

Neurobiology of disease
2019

Mechanism of activation of the human cysteine desulfurase complex by frataxin.

Proceedings of the National Academy of Sciences of the United States of America
2019

Mitochondrial Carriers for Aspartate, Glutamate and Other Amino Acids: A Review.

International journal of molecular sciences
2019

A pyruvate dehydrogenase complex disorder hypothesis for bipolar disorder.

Medical hypotheses
2019

Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome.

Human molecular genetics
2019

Mitochondrial transport proteins RHOT1 and RHOT2 serve as docking sites for PRKN-mediated mitophagy.

Autophagy
2019

Emerging Roles in the Biogenesis of Cytochrome c Oxidase for Members of the Mitochondrial Carrier Family.

Frontiers in cell and developmental biology
2019

The Molecular Mechanism of Transport by the Mitochondrial ADP/ATP Carrier.

Cell
2019

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.

Molecular genetics and metabolism
2018

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Human molecular genetics
2018

Endothelial Mitochondrial Preprotein Translocase Tomm7-Rac1 Signaling Axis Dominates Cerebrovascular Network Homeostasis.

Arteriosclerosis, thrombosis, and vascular biology
2018

PICK1 inhibits the E3 ubiquitin ligase activity of Parkin and reduces its neuronal protective effect.

Proceedings of the National Academy of Sciences of the United States of America
2018

Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease.

Nucleic acids research
2017

Disulfide driven folding for a conditionally disordered protein.

Scientific reports
2017

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

American journal of human genetics
2018

Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

Biochimica et biophysica acta. Bioenergetics
2018

Nonalcoholic Fatty Liver Disease as a Nexus of Metabolic and Hepatic Diseases.

Cell metabolism
2017

Pluronic P85/F68 Micelles of Baicalein Could Interfere with Mitochondria to Overcome MRP2-Mediated Efflux and Offer Improved Anti-Parkinsonian Activity.

Molecular pharmaceutics
2017

CRISPR fixes disease gene in viable human embryos.

Nature
2017

Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.

Molecular cell
2017

Multiple AMPK activators inhibit l-carnitine uptake in C2C12 skeletal muscle myotubes.

American journal of physiology. Cell physiology
2016

Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.

Seminars in pediatric neurology
2017

Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.

Biochimica et biophysica acta. Molecular basis of disease
2017

Understanding the Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)-Impact of a Disease-Causing Gly208Cys Substitution on Structure and Activity of NFU1 in the Fe/S Cluster Biosynthetic Pathway.

Journal of molecular biology
2017

VCP cooperates with UBXD1 to degrade mitochondrial outer membrane protein MCL1 in model of Huntington's disease.

Biochimica et biophysica acta. Molecular basis of disease
2016

TIM29 is a subunit of the human carrier translocase required for protein transport.

FEBS letters
2016

Natural and Induced Mitochondrial Phosphate Carrier Loss: DIFFERENTIAL DEPENDENCE OF MITOCHONDRIAL METABOLISM AND DYNAMICS AND CELL SURVIVAL ON THE EXTENT OF DEPLETION.

The Journal of biological chemistry
2016

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

American journal of human genetics
2016

Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.

The Biochemical journal
2016

Cereblon in health and disease.

Pflugers Archiv : European journal of physiology
2016

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.

JIMD reports
2016

Maladaptive Modulations of NLRP3 Inflammasome and Cardioprotective Pathways Are Involved in Diet-Induced Exacerbation of Myocardial Ischemia/Reperfusion Injury in Mice.

Oxidative medicine and cellular longevity
2015

The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease.

Biochemical and biophysical research communications
2016

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

European journal of human genetics : EJHG
2015

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet journal of rare diseases
2015

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Orphanet journal of rare diseases
2016

Resveratrol reduces amyloid-beta (Aβ₁₋₄₂)-induced paralysis through targeting proteostasis in an Alzheimer model of Caenorhabditis elegans.

European journal of nutrition
2015

Mitochondrial biology, targets, and drug delivery.

Journal of controlled release : official journal of the Controlled Release Society
2015

Mitochondrial pyruvate transport: a historical perspective and future research directions.

The Biochemical journal

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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. Structural transport and inhibition mechanism of the mitochondrial pyruvate carrier.
    Trends in biochemical sciences· 2026· PMID 41353022mais citado
  2. Rationally engineered cyclodextrins: smart shuttles for neurological drug targeting and BBB modulation.
    Bioorganic chemistry· 2026· PMID 41365068mais citado
  3. Nanoscale conformational dynamics of human propionyl-CoA carboxylase.
    Structure (London, England : 1993)· 2026· PMID 41197621mais citado
  4. A repurposed AMP binding domain reveals mitochondrial protein AMPylation as a regulator of cellular metabolism.
    Nature communications· 2025· PMID 40849408mais citado
  5. SIRT3 deficiency aggravates mitochondrial metabolic disorder and podocyte injury in DKD via MPC2 acetylation.
    Cellular signalling· 2025· PMID 40744329mais citado
  6. Hemocyte RNA-Seq analysis of Indian malarial vectors Anopheles stephensi and Anopheles culicifacies: From similarities to differences.
    Gene· 2021· PMID 34224830recente
  7. Serine hydroxymethyltransferase localised in the endoplasmic reticulum plays a role in scavenging H(2)O(2) to enhance rice chilling tolerance.
    BMC Plant Biol· 2020· PMID 32456700recente
  8. Alkanols inhibit respiration of intact mitochondria and display cutoff similar to that measured in vivo.
    J Pharmacol Exp Ther· 2000· PMID 10869381recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:254830(Orphanet)
  2. MONDO:0016801(MONDO)
  3. GARD:20762(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55786461(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 transportador de substrato mitocondrial
Compêndio · Raras BR

Doença do transportador de substrato mitocondrial

ORPHA:254830 · MONDO:0016801
CID-11
MedGen
UMLS
C5680716
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