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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.
Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. Barca E, et al. Among authors: potluri p. Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231. Hum Mol Genet. 2018. PMID: 29917077 Free PMC article.
Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming.
Picard M, Zhang J, Hancock S, Derbeneva O, Golhar R, Golik P, O'Hearn S, Levy S, Potluri P, Lvova M, Davila A, Lin CS, Perin JC, Rappaport EF, Hakonarson H, Trounce IA, Procaccio V, Wallace DC. Picard M, et al. Among authors: potluri p. Proc Natl Acad Sci U S A. 2014 Sep 23;111(38):E4033-42. doi: 10.1073/pnas.1414028111. Epub 2014 Sep 5. Proc Natl Acad Sci U S A. 2014. PMID: 25192935 Free PMC article.
Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.
McManus MJ, Picard M, Chen HW, De Haas HJ, Potluri P, Leipzig J, Towheed A, Angelin A, Sengupta P, Morrow RM, Kauffman BA, Vermulst M, Narula J, Wallace DC. McManus MJ, et al. Among authors: potluri p. Cell Metab. 2019 Jan 8;29(1):78-90.e5. doi: 10.1016/j.cmet.2018.08.002. Epub 2018 Aug 30. Cell Metab. 2019. PMID: 30174309 Free PMC article.
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. Simon M, et al. Among authors: potluri p. PLoS Genet. 2015 Mar 25;11(3):e1005097. doi: 10.1371/journal.pgen.1005097. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25807530 Free PMC article.
Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy.
Kopinski PK, Janssen KA, Schaefer PM, Trefely S, Perry CE, Potluri P, Tintos-Hernandez JA, Singh LN, Karch KR, Campbell SL, Doan MT, Jiang H, Nissim I, Nakamaru-Ogiso E, Wellen KE, Snyder NW, Garcia BA, Wallace DC. Kopinski PK, et al. Among authors: potluri p. Proc Natl Acad Sci U S A. 2019 Aug 6;116(32):16028-16035. doi: 10.1073/pnas.1906896116. Epub 2019 Jun 28. Proc Natl Acad Sci U S A. 2019. PMID: 31253706 Free PMC article.
45 results