Mitochondrial Medicine Frontier Program,
Division of Human Genetics,
Department of Pediatrics,
Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics
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Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases.
Developmental disabilities research reviews Jun, 2010 | Pubmed ID: 20818735
Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice.
EMBO molecular medicine Jul, 2011 | Pubmed ID: 21567994
NMNAT1 mutations cause Leber congenital amaurosis.
Nature genetics Sep, 2012 | Pubmed ID: 22842227
Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network.
PloS one , 2013 | Pubmed ID: 23894440
Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans.
Journal of molecular biology May, 2014 | Pubmed ID: 24534730
Pharmacologic targeting of sirtuin and PPAR signaling improves longevity and mitochondrial physiology in respiratory chain complex I mutant Caenorhabditis elegans.
Mitochondrion May, 2015 | Pubmed ID: 25744875
Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish.
Neurochemistry international 07, 2018 | Pubmed ID: 28732770
Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial respiratory chain disease.
Human molecular genetics 06, 2019 | Pubmed ID: 30668749
Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy.
Proceedings of the National Academy of Sciences of the United States of America 08, 2019 | Pubmed ID: 31253706
Combinatorial glucose, nicotinic acid, and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease.
Human molecular genetics Feb, 2021 | Pubmed ID: 33640978
The Children’s Hospital of Philadelphia
University of Pennsylvania Perelman School of Medicine
Manuela Lavorato*,1,
Neal D. Mathew*,1,
Nina Shah1,
Eiko Nakamaru-Ogiso1,2,
Marni J. Falk1,2
1Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children’s Hospital of Philadelphia,
2Department of Pediatrics, University of Pennsylvania Perelman School of Medicine
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