D
Douglas C. Wallace
Researcher at Children's Hospital of Philadelphia
Publications - 495
Citations - 77420
Douglas C. Wallace is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Mitochondrial DNA & Mitochondrion. The author has an hindex of 134, co-authored 475 publications receiving 72035 citations. Previous affiliations of Douglas C. Wallace include University of California & Stanford University.
Papers
More filters
Journal ArticleDOI
Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.
Xilma R. Ortiz-Gonzalez,Xilma R. Ortiz-Gonzalez,Jesus A Tintos-Hernandez,Jesus A Tintos-Hernandez,Kierstin Keller,Kierstin Keller,Xueli Li,A. Reghan Foley,Diana Bharucha-Goebel,Sudha Kilaru Kessler,Sudha Kilaru Kessler,Sabrina W. Yum,Sabrina W. Yum,Peter B. Crino,Miao He,Douglas C. Wallace,Douglas C. Wallace,Carsten G. Bönnemann +17 more
TL;DR: It is hypothesized that TBCK‐encephalopathy patients with a neurodegenerative course have defects in autophagic‐lysosomal dysfunction, and mTORC1 signaling is known to regulate autophagy.
Patent
Genetic test for hereditary neuromuscular disease
TL;DR: In this article, a method and manufacture for detecting neuromuscular disease, particularly Leber's hereditary optic neuropathy, by ascertaining whether a point mutation has occurred at the 11778 nucleotide position in the mitochondrial DNA of a patient.
Journal ArticleDOI
MITOCHIP assessment of differential gene expression in the skeletal muscle of Ant1 knockout mice: Coordinate regulation of OXPHOS, antioxidant, and apoptotic genes
Vaidya Subramaniam,Pawel Golik,Pawel Golik,Deborah G. Murdock,Deborah G. Murdock,Shawn Levy,Shawn Levy,Keith Kerstann,Pinar Coskun,Pinar Coskun,Goarik A. Melkonian,Douglas C. Wallace,Douglas C. Wallace +12 more
TL;DR: The analysis of Ant1-/- mouse skeletal muscle demonstrates that energy metabolism, antioxidant defenses, and apoptosis form an integrated metabolic network.
Journal ArticleDOI
A Mitochondrial Etiology of Neuropsychiatric Disorders
TL;DR: The mtDNA has a very high mutation rate and new mutations arise regularly, initially giving rise to mixtures of mutant and normal mtDNAs (heteroplasmy).
Journal ArticleDOI
Mitochondrial DNA and Y Chromosome-Specific Polymorphisms in the Seminole Tribe of Florida
K. Huoponen,K. Huoponen,Antonio Torroni,Antonio Torroni,Patricia R. Wickman,Daniele Sellitto,Daniel S. Gurley,Rosaria Scozzari,Douglas C. Wallace +8 more
TL;DR: The findings support historical evidence that the Seminole tribe has integrated individuals of European and African ancestry, but suggests that the sex ratio of nonnatives from different continents may have varied.