Associated Papers
Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.
Biswas S et al.
Journal of Genetics, 2024
Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions.
Burr SP et al.
Cell Metabolism, 2016
Radical S-Adenosylmethionine Enzymes in Human Health and Disease.
Landgraf BJ et al.
Annual Review of Biochemistry, 2016
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
Tsurusaki Y et al.
Journal of Human Genetics, 2015
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR et al.
Brain : a Journal of Neurology, 2014
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr JA et al.
American Journal of Human Genetics, 2011
Select a paper to view details