Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Impact of missense mutations on the structure-function relationship of human succinyl-CoA synthetase using in silico analysis.
Elabed S et al.
Mitochondrion, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
SUCLG1 restricts POLRMT succinylation to enhance mitochondrial biogenesis and leukemia progression.
Yan W et al.
The Embo Journal, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit.
Lancaster MS et al.
International Journal of Molecular Sciences, 2023
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Pauta M et al.
Fetal Diagnosis and Therapy, 2021
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.
Molaei Ramsheh S et al.
Molecular Biology Reports, 2020
Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C > T.
Finsterer J
Molecular Genetics and Metabolism Reports, 2019
Response to "Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A".
Chinopoulos C et al.
Molecular Genetics and Metabolism Reports, 2019
Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Chinopoulos C et al.
Molecular Genetics and Metabolism, 2019
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Donti TR et al.
Molecular Genetics and Metabolism, 2016
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R et al.
Journal of Inherited Metabolic Disease, 2016
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A et al.
Molecular Genetics and Metabolism, 2012
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Valayannopoulos V et al.
Mitochondrion, 2010
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
Rivera H et al.
Mitochondrion, 2010