Associated Papers
Impact of missense mutations on the structure-function relationship of human succinyl-CoA synthetase using in silico analysis.
Elabed S et al.
Mitochondrion, 2025
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
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.
Witte HM et al.
Blood Advances, 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
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D et al.
Journal of Clinical Medicine, 2021
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A et al.
Human Mutation, 2020
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.
de Castro MJ et al.
Journal of Clinical Medicine, 2020
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Couser NL et al.
American Journal of Medical Genetics. Part A, 2017
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
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
Maas RR et al.
Jimd Reports, 2016
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Matilainen S et al.
European Journal of Human Genetics : Ejhg, 2015
Mitochondrial depletion syndromes in children and adults.
Finsterer J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
Jaberi E et al.
Journal of Human Genetics, 2013
A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
Lamperti C 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
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders.
Rizza T et al.
Biochemical and Biophysical Research Communications, 2009
Disorders caused by deficiency of succinate-CoA ligase.
Ostergaard E
Journal of Inherited Metabolic Disease, 2008
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R et al.
Brain : a Journal of Neurology, 2007