These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
7. Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies. Del Dotto V; Musiani F; Baracca A; Solaini G Int J Mol Sci; 2024 Feb; 25(4):. PubMed ID: 38396915 [TBL] [Abstract][Full Text] [Related]
8. Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome. Na JH; Lee YM Acta Neurol Scand; 2022 Apr; 145(4):414-422. PubMed ID: 34877647 [TBL] [Abstract][Full Text] [Related]
9. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. Uittenbogaard M; Brantner CA; Fang Z; Wong LC; Gropman A; Chiaramello A Mol Genet Metab; 2018 May; 124(1):71-81. PubMed ID: 29602698 [TBL] [Abstract][Full Text] [Related]
14. The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Knight KM; Shelkowitz E; Larson AA; Mirsky DM; Wang Y; Chen T; Wong LJ; Friederich MW; Van Hove JLK Mitochondrion; 2020 Nov; 55():8-13. PubMed ID: 32931937 [TBL] [Abstract][Full Text] [Related]
15. Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism. Kenvin S; Torregrosa-Muñumer R; Reidelbach M; Pennonen J; Turkia JJ; Rannila E; Kvist J; Sainio MT; Huber N; Herukka SK; Haapasalo A; Auranen M; Trokovic R; Sharma V; Ylikallio E; Tyynismaa H Hum Mol Genet; 2022 Mar; 31(6):958-974. PubMed ID: 34635923 [TBL] [Abstract][Full Text] [Related]
16. Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study. Ng YS; Martikainen MH; Gorman GS; Blain A; Bugiardini E; Bunting A; Schaefer AM; Alston CL; Blakely EL; Sharma S; Hughes I; Lim A; de Goede C; McEntagart M; Spinty S; Horrocks I; Roberts M; Woodward CE; Chinnery PF; Horvath R; Nesbitt V; Fratter C; Poulton J; Hanna MG; Pitceathly RDS; Taylor RW; Turnbull DM; McFarland R Ann Neurol; 2019 Aug; 86(2):310-315. PubMed ID: 31187502 [TBL] [Abstract][Full Text] [Related]
17. Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia. Nolte D; Kang JS; Hofmann A; Schwaab E; Krämer HH; Müller U J Neurol; 2021 Dec; 268(12):4866-4873. PubMed ID: 34037856 [TBL] [Abstract][Full Text] [Related]
18. Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss: A whole mitochondrial genome screening. Alila-Fersi O; Chamkha I; Majdoub I; Gargouri L; Mkaouar-Rebai E; Tabebi M; Tlili A; Keskes L; Mahfoudh A; Fakhfakh F Biochem Biophys Res Commun; 2017 Feb; 484(1):71-78. PubMed ID: 28104394 [TBL] [Abstract][Full Text] [Related]
19. Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation. Hejzlarová K; Kaplanová V; Nůsková H; Kovářová N; Ješina P; Drahota Z; Mráček T; Seneca S; Houštěk J Biochem J; 2015 Mar; 466(3):601-11. PubMed ID: 25588698 [TBL] [Abstract][Full Text] [Related]
20. Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency. Cízková A; Stránecký V; Ivánek R; Hartmannová H; Nosková L; Piherová L; Tesarová M; Hansíková H; Honzík T; Zeman J; Divina P; Potocká A; Paul J; Sperl W; Mayr JA; Seneca S; Houstĕk J; Kmoch S BMC Genomics; 2008 Jan; 9():38. PubMed ID: 18221507 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]