Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapy
Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical Genetics
Selected Publications
21. Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Birk Jensen U, Cochat P, Decramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton D, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand D, Eccles M, Schimmenti LA, Heidet L: Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus specific database. Human Mutation. Doi:10.1002/humu.22020. Dec 2012.
Schrier SA, Wong L-J, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ : Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts. Discovery Medicine. 69: 143-150, Feb 2012.
Polyak E, Zhang Z, Falk MJ: Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans. Methods in Molecular Biology 837: 241-255, 2012.
25. Falk MJ*, Zhang Q*, Nakamaru-Ogiso E, Kannabrian C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohnad-Said S, Waseem NH, Jaleli S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X#, Pierce EA# : NMNAT1 mutations cause Leber congenital amaurosis. Nature Genetics Jul(29): doi:10.1038/ng.2361[epub ahead of print]. 2012.
Dingley S, Chapman KA, Falk MJ : Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines. Methods in Molecular Biology 837: 231-239, 2012.
Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur JA, King MP, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Procaccio V, Hakonarson H, Gai X, Falk MJ : Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. BMC Bioinformatics PMID 22011106. 12(1): 402, October 2011.
Falk MJ, Polyak E, Zhang Z, Peng M, King R, Maltzman JS, Okwuego O, Horyn O, Nakamaru-Ogiso E, Ostrovsky J, Xie LX, Chen JY, Marbois B, Nissim I, Clarke CF, Gasser DL: Probucol therapy ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice. EMBO Molecular Medicine 37(7): 410-427, July 2011.
Falk MJ, Rao M, Ostrovsky J, Daikhin E, Nissim I, Yudkoff M : Stable isotopic profiling of intermediary metabolic flux in developing and early adult stage in Caenorhabditis elegans. Journal of Visualized Experimentation. 48: p. ii: 2288. doi: 10.3791/2288, Feb 27 2011.
Foley AR, Hu Y, Zou Y, Yang M, Medne L, Leach M, Conlin L, Spinner N, Shaikh T, Falk M, Neumeyer AM, Bliss L, Tseng BS, Winder T, Bönnemann CG: Large Genomic Deletions: a Novel Cause of Ullrich Congenital Muscular Dystrophy. Annals of Neurology. doi: 10.1002/ana.22283. 69(1): 206-11, Jan 2011.
Dingley S, Chapman KA, Falk MJ : Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines. Methods in Molecular Biology. Page: In press, 2011.
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Last updated: 09/06/2012
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