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COST Action CA15203 (2016-2021): MitoEAGLE
Evolution-Age-Gender-Lifestyle-Environment: mitochondrial fitness mapping
Falk Marni J
MitoPedia topics: EAGLE
| Name | Falk Marni J, MD, Assistant Prof. |
|---|---|
| Institution | Division of Human Genetics,
The Children's Hospital of Philadelphia, US |
| Address | ARC - Room 1002c
3615 Civic Center Blvd, PA 19104 |
| City | Philadelphia |
| State/Province | Pennsylvania (PA) |
| Country | USA |
| [email protected] | |
| Weblink | |
| O2k-Network Lab | US PA Philadelphia Falk MJ |
Labels:
Field of research: Basic, Clinical
Publications
| Published | Reference | |
|---|---|---|
| Lavorato 2024 JCI Insight | 2024 | Lavorato M, Iadarola D, Remes C, Kaur P, Broxton C, Mathew ND, Xiao R, Seiler C, Nakamaru-Ogiso E, Anderson VE, Falk MJ (2024) dldhcri3 zebrafish exhibited altered mitochondrial ultrastructure, morphology and dysfunction partially rescued by probucol or thiamine. JCI Insight [Epub ahead of print]. https://doi.org/10.1172/jci.insight.178973 |
| BEC 2020.1 doi10.26124bec2020-0001.v1 | 2020 | Gnaiger E et al β MitoEAGLE Task Group (2020) Mitochondrial physiology. Bioenerg Commun 2020.1. https://doi.org/10.26124/bec:2020-0001.v1 |
| Falk 2020 Academic Press | 2020 | Falk MJ, ed (2020) Mitochondrial disease genes compendium. 1st ed. Academic Press 548 pp. |
| 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-1Ξ± stabilization increases miR-210 eliciting first trimester extravillous trophoblast mitochondrial dysfunction. Front Physiol 10:699. |
| Triska 2019 Cancer Res | 2019 | Triska P, Kaneva K, Merkurjev D, Sohail N, Falk MJ, Triche TJ Jr, Biegel JA, Gai X (2019) Landscape of germline and somatic mitochondrial DNA mutations in pediatric malignancies. https://doi.org/10.1158/0008-5472.can-18-2220 |
| 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. |
| 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-erbΞ± 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. |
Abstracts
| Published | Reference | |
|---|---|---|
| Ganetzky 2018 IOC134 | 2018 | SUIT protocol development for zebrafish embryos. |
