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Reference on EC 6.2.1.5 - succinate-CoA ligase (ADP-forming) and Organism(s) Homo sapiens and UniProt Accession P53597

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REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Elpeleg, O.; Miller, C.; Hershkovitz, E.; Bitner-Glindzicz, M.; Bondi-Rubinstein, G.; Rahman, S.; Pagnamenta, A.; Eshhar, S.; Saada, A.
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
Am. J. Hum. Genet.
76
1081-1086
2005
Homo sapiens
Manually annotated by BRENDA team
Ostergaard, E.
Disorders caused by deficiency of succinate-CoA ligase
J. Inherit. Metab. Dis.
31
226-229
2008
Homo sapiens, Homo sapiens (P53597), Homo sapiens (Q9P2R7)
Manually annotated by BRENDA team
Miller, C.; Wang, L.; Ostergaard, E.; Dan, P.; Saada, A.
The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion
Biochim. Biophys. Acta
1812
625-629
2011
Homo sapiens
Manually annotated by BRENDA team
Bishop, D.F.; Tchaikovskii, V.; Hoffbrand, A.V.; Fraser, M.E.; Margolis, S.
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the beta-subunit of succinyl-CoA synthetase (SUCLA2)
J. Biol. Chem.
287
28943-28955
2012
Homo sapiens (Q9P2R7)
Manually annotated by BRENDA team
Luis, P.B.; Ruiter, J.; Ijlst, L.; de Almeida, I.T.; Duran, M.; Wanders, R.J.; Silva, M.F.
Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases
J. Inherit. Metab. Dis.
37
353-357
2013
Homo sapiens
Manually annotated by BRENDA team
Luis, P.; Ruiter, J.; IJlst, L.; De Almeida, I.; Duran, M.; Wanders, R.; Silva, M.
Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate CoA ligases
J. Inherit. Metab. Dis.
37
353-357
2014
Homo sapiens
Manually annotated by BRENDA team
Carrozzo, R.; Verrigni, D.; Rasmussen, M.; de Coo, R.; Amartino, H.; Bianchi, M.; Buhas, D.; Mesli, S.; Naess, K.; Born, A.P.; Woldseth, B.; Prontera, P.; Batbayli, M.; Ravn, K.; Joensen, F.; Cordelli, D.M.; Santorelli, F.M.; Tulinius, M.; Darin, N.; Duno, M.; Jouvencel, P.; Burlina, A.; Stangoni, G.; , B.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1 phenotype and genotype correlations in 71 patients
J. Inherit. Metab. Dis.
39
243-252
2016
Homo sapiens (Q9P2R7), Homo sapiens
Manually annotated by BRENDA team
Huang, X.; Bedoyan, J.K.; Demirbas, D.; Harris, D.J.; Miron, A.; Edelheit, S.; Grahame, G.; DeBrosse, S.D.; Wong, L.J.; Hoppel, C.L.; Kerr, D.S.; Anselm, I.; Berry, G.T.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion
Mol. Genet. Metab.
120
213-222
2017
Homo sapiens (Q9P2R7)
Manually annotated by BRENDA team