Associated Papers
Pyruvate dehydrogenase complex component B: A Gene Associated with Cuproptosis and Encoding the Beta Subunit of Pyruvate Dehydrogenase Is Involved in the Oxidative Decarboxylation Reaction.
Liu R et al.
Dna and Cell Biology, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
Ducich NH et al.
Journal of Inherited Metabolic Disease, 2022
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S et al.
Clinical Chemistry, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Asencio C et al.
European Journal of Human Genetics : Ejhg, 2016
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Ferriero R et al.
Annals of Clinical and Translational Neurology, 2014
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A et al.
Molecular Genetics and Metabolism, 2011
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Quintana E et al.
Journal of Inherited Metabolic Disease, 2009
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