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Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans.
Ji F, Sharpley MS, Derbeneva O, Alves LS, Qian P, Wang Y, Chalkia D, Lvova M, Xu J, Yao W, Simon M, Platt J, Xu S, Angelin A, Davila A, Huang T, Wang PH, Chuang LM, Moore LG, Qian G, Wallace DC. Ji F, et al. Among authors: davila a. Proc Natl Acad Sci U S A. 2012 May 8;109(19):7391-6. doi: 10.1073/pnas.1202484109. Epub 2012 Apr 18. Proc Natl Acad Sci U S A. 2012. PMID: 22517755 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: davila a. 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.
Wafer-scale mitochondrial membrane potential assays.
Lim TS, Davila A Jr, Zand K, Wallace DC, Burke PJ. Lim TS, et al. Among authors: davila a jr. Lab Chip. 2012 Aug 7;12(15):2719-25. doi: 10.1039/c2lc40086c. Epub 2012 May 25. Lab Chip. 2012. PMID: 22627274 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: davila a. 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.
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.
Procaccio V, Salazar G, Ono S, Styers ML, Gearing M, Davila A, Jimenez R, Juncos J, Gutekunst CA, Meroni G, Fontanella B, Sontag E, Sontag JM, Faundez V, Wainer BH. Procaccio V, et al. Among authors: davila a. Am J Hum Genet. 2006 Jun;78(6):947-60. doi: 10.1086/504271. Epub 2006 Apr 21. Am J Hum Genet. 2006. PMID: 16685646 Free PMC article.
661 results