Associated Papers
Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2026
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children.
Han X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.
Fortin O et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
PARylated PDHE1α generates acetyl-CoA for local chromatin acetylation and DNA damage repair.
Zhang J et al.
Nature Structural & Molecular Biology, 2023
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
Pyruvate dehydrogenase complex deficiency mimicking congenital cytomegalovirus infection on imaging.
Rahesh J et al.
Proceedings (baylor University. Medical Center), 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
Shelkowitz E et al.
Journal of Child Neurology, 2020
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Bird MJ et al.
Metabolites, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex.
Drakulic S et al.
Cellular and Molecular Life Sciences : Cmls, 2018
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E et al.
Molecular Genetics and Metabolism Reports, 2016
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.
Pirot N et al.
Journal of Neuropathology and Experimental Neurology, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
Stranneheim H et al.
Bmc Genomics, 2014
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Deeb KK et al.
Molecular Genetics and Metabolism Reports, 2014
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
DeBrosse SD et al.
Molecular Genetics and Metabolism, 2012
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
Joost K et al.
Molecular Syndromology, 2012
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
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Coughlin CR et al.
Molecular Genetics and Metabolism, 2010
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Quintana E et al.
Clinical Genetics, 2010
A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.
Han Z et al.
Molecular Genetics and Metabolism, 2008
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
Han Z et al.
The Journal of Biological Chemistry, 2008
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Cameron JM et al.
American Journal of Medical Genetics. Part A, 2004
Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
Fouque F et al.
Pediatric Research, 2003
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Lissens W et al.
Human Mutation, 2000
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency.
Morten KJ et al.
Neurology, 1999
Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
Morten KJ et al.
Neurology, 1998
Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
Otero LJ et al.
Human Mutation, 1998
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Lissens W et al.
Human Mutation, 1996
A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).
Takakubo F et al.
Human Molecular Genetics, 1993