| 1 | FLAMM, MDDS4, SUCLA2, SUCLG1
|
| 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.
|
| J Inherit Metab Dis Inherit Metab Dis. 2015 Oct 16. [Epub ahead of print]
2015
|
| 2 | MDDS4, SUCLA2
|
| SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
|
| Maas RR, Marina AD, de Brouwer AP, Wevers RA, Rodenburg RJ, Wortmann SB.
|
| JIMD Rep IMD Rep. 2015 Sep 27. [Epub ahead of print]
2015
|
| 3 | SUCLA2, SUCLG2
|
| Localization of SUCLA2 and SUCLG2 subunits of succinyl CoA ligase within the cerebral cortex suggests the absence of matrix substrate-level phosphorylation in glial cells of the human brain.
|
| Dobolyi A, Bagó AG, Gál A, Molnár MJ, Palkovits M, Adam-Vizi V, Chinopoulos C.
|
| J Bioenerg Biomembr 47(1-2):33-41. doi: 10.1007/s10863-014-9586-4. Epub 2014 Nov 5.
2015
|
| 4 | SUCLA2, SUCLG2
|
| Exclusive neuronal expression of SUCLA2 in the human brain.
|
| Dobolyi A, Ostergaard E, Bagó AG, Dóczi T, Palkovits M, Gál A, Molnár MJ, Adam-Vizi V, Chinopoulos C.
|
| Brain Struct Funct 220(1):135-51. doi: 10.1007/s00429-013-0643-2. Epub 2013 Oct 2.
2015
|
| 5 | MDDS4, SUCLA2
|
| Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
|
| Matilainen S, Isohanni P, Euro L, Lönnqvist T, Pihko H, Kivelä T, Knuutila S, Suomalainen A.
|
| Eur J Hum Genet 23(3):325-30. doi: 10.1038/ejhg.2014.128. Epub 2014 Jul 2. Review.
2015
|
| 6 | ALAS2, ASB, SUCLA2
|
| X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
|
| Bishop DF, Tchaikovskii V, Hoffbrand AV, Fraser ME, Margolis S.
|
| J Biol Chem 287(34):28943-55. doi: 10.1074/jbc.M111.306423. Epub 2012 Jun 27.
2012
|
| 7 | MDDS4, SUCLA2
|
| A novel homozygous mutation in SUCLA2 gene identified by exome sequencing.
|
| Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J, Ghezzi D.
|
| Mol Genet Metab 107(3):403-8. doi: 10.1016/j.ymgme.2012.08.020. Epub 2012 Sep 7.
2012
|
| 8 | SUCLA2, SUCLG2
|
| The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.
|
| Miller C, Wang L, Ostergaard E, Dan P, Saada A.
|
| Biochim Biophys Acta 1812(5):625-9. doi: 10.1016/j.bbadis.2011.01.013. Epub 2011 Feb 2.
2011
|
| 9 | SUCLA2, MDDS4
|
| Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
|
| Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M.
|
| Brain 130(Pt 3):853-61. Epub 2007 Feb 7. 2007
|
| 10 | SUCLA2, MDDS4
|
| SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
|
| Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.
|
| Brain 130(Pt 3):862-74. Epub 2007 Feb 14. 2007
|
| 11 | SUCLA2, MDDS4
|
| Mutations in SUCLA2: a tandem ride back to the Krebs cycle.
|
| Chinnery PF.
|
| Brain 130(Pt 3):606-9. Review. No abstract available. 2007
|
| 12 | MDDS4, SUCLA2
|
| Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion.
|
| Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A.
|
| Am J Hum Genet 76(6):1081-6. Epub 2005 Apr 22. 2005
|
| 13 | SUCLA2
|
| Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.
|
| Furuyama K, Sassa S.
|
| J Clin Invest 105(6):757-64. 2000
|
| 14 | SUCLA2, SUCLG2
|
| Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes.
|
| Johnson JD, Mehus JG, Tews K, Milavetz BI, Lambeth DO.
|
| J Biol Chem 273(42):27580-6. 1998
|