US PA Philadelphia Falk MJ

US PA Philadelphia Falk MJ

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, Tara Seyedeh Zahra
Team previous	Kong Jenny, Parente Michael, Polyak Erzsebet, Sheldon Claire
Status	5 Power-O2k 2008-
Oroboros Events	IOC134, IOC100, IOC91, IOC47
Topics	Respiratory OXPHOS disease

O2k-Publications

	Published	Reference
Tremmel 2022 Sci Rep	2022	Tremmel DM, Sackett SD, Feeney AK, Mitchell SA, Schaid MD, Polyak E, Chlebeck PJ, Gupta S, Kimple ME, Fernandez LA, Odorico JS (2022) A human pancreatic ECM hydrogel optimized for 3-D modeling of the islet microenvironment. https://doi.org/10.1038/s41598-022-11085-z
Gustafson 2019 PLoS One	2019	Gustafson 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.
Anton 2019 Front Physiol	2019	Anton L, DeVine A, Polyak E, Olarerin-George A, Brown AG, Falk MJ, Elovitz MA (2019) HIF-1α stabilization increases miR-210 eliciting first trimester extravillous trophoblast mitochondrial dysfunction. Front Physiol 10:699.
Barca 2018 Hum Mol Genet	2018	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 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 Perspect	2017	Bansal 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 Med	2016	Sengupta 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 One	2013	Zhang 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 Mitochondrion	2012	Ziegler 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 Med	2012	Falk 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 Biochemistry	2010	Sondheimer 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 Metab	2008	Haas 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

	Published	Reference
Ganetzky 2018 IOC134	2018	SUIT protocol development for zebrafish embryos.

MiPNet Reference Laboratory of the Week - 2012-05-06

The Mitochondrial Disease Sequence Data Resource

» Molecular genetics and metabolism PMID: 25542617 (2015)

» Mitochondrial diseases in the US (2015)

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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)