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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.

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Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication

TL;DR: Investigation of the sequence of the mtDNA control region (CR) from AD brains for possible disease-causing mutations revealed that all AD brains had an average 63% increase in heteroplasmic mtDNA CR mutations and that AD brains from patients 80 years and older had a 130% increase.
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Mitochondrial DNA sequence variation in human evolution and disease.

TL;DR: All extant mutations of this class are recent and associated with more devastating diseases of young adults and children and provide a molecular clock that measures the authors' age and may cause a progressive decline in tissue energy output that could precipitate the onset of degenerative diseases in individuals harboring inherited deleterious mutations.
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Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

TL;DR: The observed spectrum of clinical manifestations resulting from this heteroplasmic mtDNA mutation implies that mtDNA disease may be much more prevalent than previously anticipated.
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A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase

TL;DR: In this article, the superoxide dismutase (SOD) mimetic Manganese 5, 10, 15, 20, 20-tetrakis (4-benzoic acid) porphyrin (MnTBAP) was used to save mice from systemic pathology and dramatically prolong their survival.
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Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

TL;DR: The muscle mitochondria of a patient with Kearns-Sayre/chronic external ophthalmoplegia plus syndrome were found to be completely deficient in respiratory complex I activity and partially deficient in complex IV and V activities as mentioned in this paper.