140 related articles for article (PubMed ID: 38755691)
1. A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
Sala D; Marchet S; Nanetti L; Legati A; Mariotti C; Lamantea E; Ghezzi D; Catania A; Lamperti C
Orphanet J Rare Dis; 2024 May; 19(1):200. PubMed ID: 38755691
[TBL] [Abstract][Full Text] [Related]
2. A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.
Kytövuori L; Lipponen J; Rusanen H; Komulainen T; Martikainen MH; Majamaa K
J Neurol; 2016 Nov; 263(11):2188-2195. PubMed ID: 27502083
[TBL] [Abstract][Full Text] [Related]
3. Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Auré K; Dubourg O; Jardel C; Clarysse L; Sternberg D; Fournier E; Laforêt P; Streichenberger N; Petiot P; Gervais-Bernard H; Vial C; Bedat-Millet AL; Drouin-Garraud V; Bouillaud F; Vandier C; Fontaine B; Lombès A
Neurology; 2013 Nov; 81(21):1810-8. PubMed ID: 24153443
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Jackson CB; Hahn D; Schröter B; Richter U; Battersby BJ; Schmitt-Mechelke T; Marttinen P; Nuoffer JM; Schaller A
Eur J Med Genet; 2017 Jun; 60(6):345-351. PubMed ID: 28412374
[TBL] [Abstract][Full Text] [Related]
7. MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
Ganetzky RD; Stendel C; McCormick EM; Zolkipli-Cunningham Z; Goldstein AC; Klopstock T; Falk MJ
Hum Mutat; 2019 May; 40(5):499-515. PubMed ID: 30763462
[TBL] [Abstract][Full Text] [Related]
8. Clinical Heterogeneity in
Capiau S; Smet J; De Paepe B; Yildiz Y; Arslan M; Stevens O; Verschoore M; Stepman H; Seneca S; Vanlander A
Cells; 2022 Jan; 11(3):. PubMed ID: 35159298
[TBL] [Abstract][Full Text] [Related]
9. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
López-Gallardo E; Solano A; Herrero-Martín MD; Martínez-Romero I; Castaño-Pérez MD; Andreu AL; Herrera A; López-Pérez MJ; Ruiz-Pesini E; Montoya J
J Med Genet; 2009 Jan; 46(1):64-7. PubMed ID: 19124644
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.
Blanco-Grau A; Bonaventura-Ibars I; Coll-Cantí J; Melià MJ; Martinez R; Martínez-Gallo M; Andreu AL; Pinós T; García-Arumí E
Genes Brain Behav; 2013 Nov; 12(8):812-20. PubMed ID: 24118886
[TBL] [Abstract][Full Text] [Related]
13. A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
Mordel P; Schaeffer S; Dupas Q; Laville MA; Gérard M; Chapon F; Allouche S
Biochem Biophys Res Commun; 2017 Dec; 494(1-2):133-137. PubMed ID: 29054413
[TBL] [Abstract][Full Text] [Related]
14. Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Pitceathly RD; Murphy SM; Cottenie E; Chalasani A; Sweeney MG; Woodward C; Mudanohwo EE; Hargreaves I; Heales S; Land J; Holton JL; Houlden H; Blake J; Champion M; Flinter F; Robb SA; Page R; Rose M; Palace J; Crowe C; Longman C; Lunn MP; Rahman S; Reilly MM; Hanna MG
Neurology; 2012 Sep; 79(11):1145-54. PubMed ID: 22933740
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.
D'Aurelio M; Vives-Bauza C; Davidson MM; Manfredi G
Hum Mol Genet; 2010 Jan; 19(2):374-86. PubMed ID: 19875463
[TBL] [Abstract][Full Text] [Related]
17. Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.
Kara B; Arıkan M; Maraş H; Abacı N; Cakıris A; Ustek D
Mol Genet Metab; 2012 Nov; 107(3):389-93. PubMed ID: 22819295
[TBL] [Abstract][Full Text] [Related]
18. Expanding the clinical phenotypes of MT-ATP6 mutations.
López-Gallardo E; Emperador S; Solano A; Llobet L; Martín-Navarro A; López-Pérez MJ; Briones P; Pineda M; Artuch R; Barraquer E; Jericó I; Ruiz-Pesini E; Montoya J
Hum Mol Genet; 2014 Dec; 23(23):6191-200. PubMed ID: 24986921
[TBL] [Abstract][Full Text] [Related]
19. Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.
Järviaho T; Hurme-Niiranen A; Soini HK; Niinimäki R; Möttönen M; Savolainen ER; Hinttala R; Harila-Saari A; Uusimaa J
Clin Genet; 2018 Feb; 93(2):275-285. PubMed ID: 28708239
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
