SUCLG1 cDNA ORF clone, Homo sapiens(human)

Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Maalej M, Tej A, Bouguila J, Tilouche S, Majdoub S, Khabou B, Tabbebi M, Felhi R, Ammar M, Mkaouar-Rebai E, Keskes L, Boughamoura L, Fakhfakh F
Biochemical and biophysical research communications495(2)1730-1737(2018 Jan)

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Donti TR, Masand R, Scott DA, Craigen WJ, Graham BH
Molecular genetics and metabolism119(1-2)68-74(2016 09)

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E
Journal of inherited metabolic disease39(2)243-52(2016 Mar)

Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
Liu Y, Li X, Wang Q, Ding Y, Song J, Yang Y
Brain & development38(1)61-7(2016 Jan)

These abnormal phenotypes are rescued upon ectopic expression of wild-type SUCLG1 in the patient's fibroblasts, thus functionally confirming the pathogenic nature of the SUCLG1 VUS identified in this patient and expanding the phenotypic spectrum for SUCLG1 deficiency
Title: Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.

Long survival, to age 20 years or older, was reported in 12% of SUCLA2 and in 10% of SUCLG1 patients.
Title: Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

First Chinese report of succinyl-CoA ligase deficiency caused by novel SUCLG1 mutations; five novel pathogenic mutations in SUCLG1 were identified
Title: Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.

3 novel mutations have been identified in patients with the mitochondrial DNA depletion syndrome (c.1048G>A and c.1049G>T in SUCLA2 and c.531+4A>T in SUCLG1).
Title: Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.