Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 103

1.

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion.

Miller C, Wang L, Ostergaard E, Dan P, Saada A.

Biochim Biophys Acta. 2011 May;1812(5):625-9. doi: 10.1016/j.bbadis.2011.01.013. Epub 2011 Feb 2.

2.

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.

Donti TR, Stromberger C, Ge M, Eldin KW, Craigen WJ, Graham BH.

Dis Model Mech. 2014 Feb;7(2):271-80. doi: 10.1242/dmm.013466. Epub 2013 Nov 21.

3.

Disorders caused by deficiency of succinate-CoA ligase.

Ostergaard E.

J Inherit Metab Dis. 2008 Apr;31(2):226-9. doi: 10.1007/s10545-008-0828-7. Epub 2008 Apr 4. Review.

PMID:
18392745
5.

Novel mutation in SUCLA2 identified on sequencing analysis.

Güngör O, Özkaya AK, Güngör G, Karaer K, Dilber C, Aydin K.

Pediatr Int. 2016 Jul;58(7):659-61. doi: 10.1111/ped.12921. Epub 2016 Mar 8.

PMID:
26952923
6.

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. 2005 Jun;76(6):1081-6. Epub 2005 Apr 22.

7.

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. 2015 Apr;47(1-2):33-41. doi: 10.1007/s10863-014-9586-4. Epub 2014 Nov 5.

PMID:
25370487
8.

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.

Luís PB, Ruiter J, IJlst L, de Almeida IT, Duran M, Wanders RJ, Silva MF.

J Inherit Metab Dis. 2014 May;37(3):353-7. doi: 10.1007/s10545-013-9657-4. Epub 2013 Oct 24.

PMID:
24154984
9.

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. 2015 Jan;220(1):135-51. doi: 10.1007/s00429-013-0643-2. Epub 2013 Oct 2.

PMID:
24085565
10.

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. 2015 Mar;23(3):325-30. doi: 10.1038/ejhg.2014.128. Epub 2014 Jul 2. Review.

12.

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

Nogueira C, Meschini MC, Nesti C, Garcia P, Diogo L, Valongo C, Costa R, Videira A, Vilarinho L, Santorelli FM.

J Child Neurol. 2015 Feb;30(2):228-32. doi: 10.1177/0883073814527158. Epub 2014 Mar 20.

PMID:
24659738
13.

Two transgenic mouse models for β-subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.

Kacso G, Ravasz D, Doczi J, Németh B, Madgar O, Saada A, Ilin P, Miller C, Ostergaard E, Iordanov I, Adams D, Vargedo Z, Araki M, Araki K, Nakahara M, Ito H, Gál A, Molnár MJ, Nagy Z, Patocs A, Adam-Vizi V, Chinopoulos C.

Biochem J. 2016 Oct 15;473(20):3463-3485. Epub 2016 Aug 5.

14.

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS.

Acta Neuropathol. 2013 Feb;125(2):245-56. doi: 10.1007/s00401-012-1036-y. Epub 2012 Aug 28.

PMID:
22926664
15.

[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature].

Liu Z, Fang F, Ding C, Wu H, Lyu J, Wu Y.

Zhonghua Er Ke Za Zhi. 2014 Nov;52(11):817-21. Review. Chinese.

PMID:
25582465
16.

Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity.

Villarroya J, Lara MC, Dorado B, Garrido M, García-Arumí E, Meseguer A, Hirano M, Vilà MR.

Biochem Biophys Res Commun. 2011 Apr 8;407(2):333-8. doi: 10.1016/j.bbrc.2011.03.018. Epub 2011 Mar 5.

PMID:
21382338
17.

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F.

Am J Hum Genet. 2007 Aug;81(2):383-7. Epub 2007 Jun 4.

18.

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. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.

PMID:
26475597
19.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A.

Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31.

PMID:
22980518
20.

Quantitative evaluation of the mitochondrial DNA depletion syndrome.

Dimmock D, Tang LY, Schmitt ES, Wong LJ.

Clin Chem. 2010 Jul;56(7):1119-27. doi: 10.1373/clinchem.2009.141549. Epub 2010 May 6.

Supplemental Content

Support Center