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
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
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