US PA Philadelphia Falk MJ

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US PA Philadelphia Falk MJ

Oroboros O2k-Network

O2k-Network
O2k-Network Lab The Children's Hospital of Philadelphia

Division of Human Genetics

Address ARC - Room 1002c

3615 Civic Center Blvd, PA 19104

City Philadelphia
State/Prov Pennsylvania (PA)
Country USA
Weblink Falk MJ
Contact Falk Marni J
Team Clever Sheila, Ganetzky Rebecca, Ostrovsky Julian, Tan Lu
Team previous Kong Jenny, Parente Michael, Polyak Erzsebet, Sheldon Claire
Status 2 Power-O2k 2008-
Oroboros Events IOC134, IOC100, IOC91, IOC47
Topics Respiratory OXPHOS disease


O2k-Publications

 PublishedReference
Gustafson 2019 PLoS One2019Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ (2019) Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. PLoS One 14:e0221829.
Barca 2018 Hum Mol Genet2018Barca 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 E, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ (2018) USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 27:3305-12.
Bansal 2017 Environ Health Perspect2017Bansal A, Rashid C, Xin F, Li C, Polyak E, Duemler A, van der Meer T, Stefaniak M, Wajid S, Doliba N, Bartolomei MS, Simmons RA (2017) Sex- and dose-specific effects of maternal bisphenol A exposure on pancreatic islets of first- and second-generation adult mice offspring. Environ Health Perspect 125:097022.
Sengupta 2016 Free Radic Biol Med2016Sengupta S, Yang G, O'Donnell JC, Hinson MD, McCormack SE, Falk MJ, La P, Robinson MB, Williams ML, Yohannes MT, Polyak E, Nakamaru-Ogiso E, Dennery PA (2016) The circadian gene Rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress. Free Radic Biol Med 93:177-89.
Zhang 2013 PLoS One2013Zhang Z, Tsukikawa M, Peng M, Polyak E, Nakamaru-Ogiso E, Ostrovsky J, McCormack S, Place E, Clarke C, Reiner G, McCormick E, Rappaport E, Haas R, Baur JA, Falk MJ (2013) Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network. PLoS One 8:e69282.
Ziegler 2012 Mitochondrion2012Ziegler CG, Peng M, Falk MJ, Polyak E, Tsika E, Ischiropoulos H, Bakalar D, Blendy JA, Gasser DL (2012) Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice. Mitochondrion 12:248-57.
Falk 2012 EMBO Mol Med2012Falk MJ, Polyak E, Zhang Z, Peng M, King R, Maltzman JS, Okwuego E, Horyn O, Nakamaru-Ogiso E, Ostrovsky J, Xie LX, Chen JY, Marbois B, Nissim I, Clarke CF, Gasser DL (2012) Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice. EMBO Mol Med 3:410-27.
Sondheimer 2010 Biochemistry2010Sondheimer N, Fang JK, Polyak E, Falk MJ, Avadhani NG (2010) Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription. Biochemistry 49:7467-73.
Haas 2008 Mol Genet Metab2008Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK (2008) The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 94:16-37.

O2k-Abstracts

 PublishedReference
Ganetzky 2018 IOC1342018SUIT protocol development for zebrafish embryos.

The Mitochondrial Disease Sequence Data Resource

» Molecular genetics and metabolism PMID: 25542617 (2015)
» Mitochondrial diseases in the US (2015)


Feedback

  • We use the O2k to study permeabilized human cells and permeabilized mouse tissues to assess integrated respiratory capacity in different genetic mutants and in response to specific pharmacologic agents. Marni J Falk
  • .. we are very impressed with the instrument .. - Marni J Falk (2009)