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362 related items for PubMed ID: 20547844
1. Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells. Suen DF, Narendra DP, Tanaka A, Manfredi G, Youle RJ. Proc Natl Acad Sci U S A; 2010 Jun 29; 107(26):11835-40. PubMed ID: 20547844 [Abstract] [Full Text] [Related]
3. Parkin modulates heteroplasmy of truncated mtDNA in Caenorhabditis elegans. Valenci I, Yonai L, Bar-Yaacov D, Mishmar D, Ben-Zvi A. Mitochondrion; 2015 Jan 29; 20():64-70. PubMed ID: 25462019 [Abstract] [Full Text] [Related]
4. A yeast model of the neurogenic ataxia retinitis pigmentosa (NARP) T8993G mutation in the mitochondrial ATP synthase-6 gene. Rak M, Tetaud E, Duvezin-Caubet S, Ezkurdia N, Bietenhader M, Rytka J, di Rago JP. J Biol Chem; 2007 Nov 23; 282(47):34039-47. PubMed ID: 17855363 [Abstract] [Full Text] [Related]
5. Bioenergetics of mitochondrial diseases associated with mtDNA mutations. Lenaz G, Baracca A, Carelli V, D'Aurelio M, Sgarbi G, Solaini G. Biochim Biophys Acta; 2004 Jul 23; 1658(1-2):89-94. PubMed ID: 15282179 [Abstract] [Full Text] [Related]
6. Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes). Bakker A, Barthélémy C, Frachon P, Chateau D, Sternberg D, Mazat JP, Lombès A. Pediatr Res; 2000 Aug 23; 48(2):143-50. PubMed ID: 10926287 [Abstract] [Full Text] [Related]
7. Mitochondrial Retinopathies. Zeviani M, Carelli V. Int J Mol Sci; 2021 Dec 25; 23(1):. PubMed ID: 35008635 [Abstract] [Full Text] [Related]
8. Deregulating mitochondrial metabolite and ion transport has beneficial effects in yeast and human cellular models for NARP syndrome. Su X, Rak M, Tetaud E, Godard F, Sardin E, Bouhier M, Gombeau K, Caetano-Anollés D, Salin B, Chen H, di Rago JP, Tribouillard-Tanvier D. Hum Mol Genet; 2019 Nov 15; 28(22):3792-3804. PubMed ID: 31276579 [Abstract] [Full Text] [Related]
9. Analysis of common mitochondrial DNA mutations by allele-specific oligonucleotide and Southern blot hybridization. Tang S, Halberg MC, Floyd KC, Wang J. Methods Mol Biol; 2012 Nov 15; 837():259-79. PubMed ID: 22215554 [Abstract] [Full Text] [Related]
10. Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations. Gammage PA, Rorbach J, Vincent AI, Rebar EJ, Minczuk M. EMBO Mol Med; 2014 Apr 15; 6(4):458-66. PubMed ID: 24567072 [Abstract] [Full Text] [Related]
11. Detection of heteroplasmic mitochondrial DNA in single mitochondria. Reiner JE, Kishore RB, Levin BC, Albanetti T, Boire N, Knipe A, Helmerson K, Deckman KH. PLoS One; 2010 Dec 16; 5(12):e14359. PubMed ID: 21179558 [Abstract] [Full Text] [Related]
13. 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 16; 107(3):389-93. PubMed ID: 22819295 [Abstract] [Full Text] [Related]
14. Modeling of antigenomic therapy of mitochondrial diseases by mitochondrially addressed RNA targeting a pathogenic point mutation in mitochondrial DNA. Tonin Y, Heckel AM, Vysokikh M, Dovydenko I, Meschaninova M, Rötig A, Munnich A, Venyaminova A, Tarassov I, Entelis N. J Biol Chem; 2014 May 09; 289(19):13323-34. PubMed ID: 24692550 [Abstract] [Full Text] [Related]
15. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX. Hum Mol Genet; 2016 Feb 01; 25(3):584-96. PubMed ID: 26647310 [Abstract] [Full Text] [Related]
16. MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases. Hashimoto M, Bacman SR, Peralta S, Falk MJ, Chomyn A, Chan DC, Williams SL, Moraes CT. Mol Ther; 2015 Oct 01; 23(10):1592-9. PubMed ID: 26159306 [Abstract] [Full Text] [Related]
17. Metabolic rescue in pluripotent cells from patients with mtDNA disease. Ma H, Folmes CD, Wu J, Morey R, Mora-Castilla S, Ocampo A, Ma L, Poulton J, Wang X, Ahmed R, Kang E, Lee Y, Hayama T, Li Y, Van Dyken C, Gutierrez NM, Tippner-Hedges R, Koski A, Mitalipov N, Amato P, Wolf DP, Huang T, Terzic A, Laurent LC, Izpisua Belmonte JC, Mitalipov S. Nature; 2015 Aug 13; 524(7564):234-8. PubMed ID: 26176921 [Abstract] [Full Text] [Related]
18. Parkin protects mitochondrial genome integrity and supports mitochondrial DNA repair. Rothfuss O, Fischer H, Hasegawa T, Maisel M, Leitner P, Miesel F, Sharma M, Bornemann A, Berg D, Gasser T, Patenge N. Hum Mol Genet; 2009 Oct 15; 18(20):3832-50. PubMed ID: 19617636 [Abstract] [Full Text] [Related]
19. Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. Matthews PM, Brown RM, Morten K, Marchington D, Poulton J, Brown G. Hum Genet; 1995 Sep 15; 96(3):261-8. PubMed ID: 7649539 [Abstract] [Full Text] [Related]
20. Characterization of chemically modified oligonucleotides targeting a pathogenic mutation in human mitochondrial DNA. Tonin Y, Heckel AM, Dovydenko I, Meschaninova M, Comte C, Venyaminova A, Pyshnyi D, Tarassov I, Entelis N. Biochimie; 2014 May 15; 100():192-9. PubMed ID: 23994754 [Abstract] [Full Text] [Related] Page: [Next] [New Search]