Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
Wesół-Kucharska D et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
Karissa P et al.
British Journal of Biomedical Science, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
Shelkowitz E et al.
Journal of Child Neurology, 2020
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I et al.
Journal of Clinical Medicine, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.
Habarou F et al.
Jimd Reports, 2018
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
Yoshida T et al.
Human Genome Variation, 2017
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
Menezes MP et al.
Mitochondrion, 2016
Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A et al.
Orphanet Journal of Rare Diseases, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.
van Dongen S et al.
Jimd Reports, 2015
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
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Giribaldi G et al.
Developmental Medicine and Child Neurology, 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
Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency.
Sato S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2010
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Quintana E et al.
Clinical Genetics, 2010
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Barnerias C et al.
Developmental Medicine and Child Neurology, 2010
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
Bachmann-Gagescu R et al.
Journal of Inherited Metabolic Disease, 2009
Probing pyruvate metabolism in normal and mutant fibroblast cell lines using 13C-labeled mass isotopomer analysis and mass spectrometry.
Riazi R et al.
Molecular Genetics and Metabolism, 2009
Next generation sequence analysis for mitochondrial disorders.
Vasta V et al.
Genome Medicine, 2009
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
João Silva M et al.
European Journal of Pediatrics, 2009
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
Lee EH et al.
Journal of Korean Medical Science, 2006
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Naito E et al.
Biochimica Et Biophysica Acta, 2002
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Naito E et al.
Journal of the Neurological Sciences, 2002
Survey of human mitochondrial diseases using new genomic/proteomic tools.
Plasterer TN et al.
Genome Biology, 2001
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
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.
Marsac C et al.
Human Genetics, 1997
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
Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
Jauhari P et al.
Journal of Pediatric Neurosciences, 0