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Genomes and Genes | D C WallaceSummaryAffiliation: Emory University Country: USA Publications
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Publications
Mitochondria and dystonia: the movement disorder connection?D C Wallace
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
Proc Natl Acad Sci U S A 96:1817-9. 1999
Mitochondrial diseases in man and mouseD C Wallace
Center for Molecular Medicine, Emory University, 1462 Clifton Road, Suite 420, Atlanta, GA 30322, USA
Science 283:1482-8. 1999..The importance and interrelationship of these functions are now being studied in mouse models of mitochondrial disease...- Mitochondrial DNA mutations in human degenerative diseases and agingD C Wallace
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
Biochim Biophys Acta 1271:141-51. 1995.... - Mitochondrial DNA rearrangements in aging human brain and in situ PCR of mtDNAS Melov
Center for Molecular Medicine, Emory University, Atlanta, GA 30322, USA
Neurobiol Aging 20:565-71. 1999..In addition, we have developed in situ polymerase chain reaction to detect mtDNA within individual cells of both the mouse and the human brain as a first step in identifying and enumerating cells containing mutant mtDNAs in situ... - Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathyM D Brown
Center for Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322
Genetics 130:163-73. 1992.... - Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathyD C Wallace
Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322
Science 242:1427-30. 1988..This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease... - A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystoniaA S Jun
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322
Proc Natl Acad Sci U S A 91:6206-10. 1994.... - Mitochondrial disease in mouse results in increased oxidative stressL A Esposito
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
Proc Natl Acad Sci U S A 96:4820-5. 1999..Hence, inhibition of OXPHOS does increase mitochondrial ROS production, eliciting antioxidant defenses. If the antioxidant defenses are insufficient to detoxify the ROS, then an increased mtDNA mutation rate can result... - Ocular pathology in mitochondrial superoxide dismutase (Sod2)-deficient miceJ M Sandbach
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA
Invest Ophthalmol Vis Sci 42:2173-8. 2001..To characterize the pathologic features in retina, optic nerve, and extraocular muscle of mitochondrial superoxide dismutase (Sod2)-deficient mice, a model of increased mitochondrial production of reactive oxygen species... - Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation TeamN J Newman
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia 30322
Am J Ophthalmol 118:158-68. 1994..Maternal family members harbored the highly pathogenetic mutation at nucleotide position 11778... - Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutationsM D Brown
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Hum Mutat 6:311-25. 1995..A phylogenetic approach to this genetically heterogeneous disease has thus provided key genetic data bearing on the relative pathogenicity of the LHON-associated mtDNA mutations... - Variable genotype of Leber's hereditary optic neuropathy patientsM T Lott
Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30329
Am J Ophthalmol 109:625-31. 1990.... - Mitochondrial oxidative stress in mice lacking the glutathione peroxidase-1 geneL A Esposito
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
Free Radic Biol Med 28:754-66. 2000..Hence, genetic inactivation of Gpx1 resulted in growth retardation, presumably due in part to reduced mitochondrial energy production as a product of increased oxidative stress... - Coordinate induction of energy gene expression in tissues of mitochondrial disease patientsA Heddi
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Biol Chem 274:22968-76. 1999..These observations suggest that human tissues attempt to compensate for OXPHOS defects associated with mtDNA mutations by stimulating mitochondrial biogenesis, possibly mediated through redox-sensitive transcription factors... - Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric miceJ E Sligh
Center for Molecular Medicine, Departments of Dermatology and Pathology and Division of Animal Resources, Emory University School of Medicine, 1462 Clifton Road, Atlanta, GA 30322, USA
Proc Natl Acad Sci U S A 97:14461-6. 2000..Skeletal and heart muscle mitochondria of the CAP(R) mice were enlarged and atypical with inclusions. This mouse ES cell-cybrid approach now provides the means to generate a wide variety of mouse models of mitochondrial disease... - A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit IM D Brown
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322
Am J Hum Genet 51:378-85. 1992..These data suggest that the np 7444 mutation results in partial respiratory deficiency and thus contributes to the onset of LHON... - Mitochondrial DNA mutations associated with neuromuscular diseases: analysis and diagnosis using the polymerase chain reactionD C Wallace
Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia 30322
Pediatr Res 28:525-8. 1990..As additional mtDNA molecular defects are identified, molecular analysis will likely become a primary tool for the diagnosis of these diseases... - Mitochondrial disease in superoxide dismutase 2 mutant miceS Melov
Center for Molecular Medicine, Emory University, Atlanta, GA 30322, USA
Proc Natl Acad Sci U S A 96:846-51. 1999.... - Increased mitochondrial oxidative stress in the Sod2 (+/-) mouse results in the age-related decline of mitochondrial function culminating in increased apoptosisJ E Kokoszka
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
Proc Natl Acad Sci U S A 98:2278-83. 2001..Thus mitochondrial reactive oxygen species production, oxidative stress, functional decline, and the initiation of apoptosis appear to be central components of the aging process... - Mouse models of mitochondrial disease, oxidative stress, and senescenceS Melov
Center for Molecular Medicine, Emory University, Atlanta, GA 30322, USA
Mutat Res 434:233-42. 1999..This implies that a causal relationship may exist between mitochondrial reactive oxygen species production, and the senescence specific occurrence of mitochondrial DNA mutations... - The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutationN J Newman
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia
Am J Ophthalmol 111:750-62. 1991..Genetic analysis showed the mitochondrial DNA mutation at position 11778, which established the diagnosis of Leber's hereditary optic neuropathy and has allowed for a broader view of the clinical features of this disease... - A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathyG Singh
Department of Biochemistry, Emory University, Atlanta, GA
N Engl J Med 320:1300-5. 1989..This genetic analysis has identified the specific point mutation in the mitochondrial DNA that results in Leber's hereditary optic neuropathy... - A mitochondrial paradigm for degenerative diseases and ageingD C Wallace
Center for Molecular Medicine, Emory University, 1462 Clifton Road, Suite 420, Atlanta, GA 30322, USA
Novartis Found Symp 235:247-63; discussion 263-6. 2001..Thus, the decline of mitochondrial energy production resulting in increased oxidative stress and apoptosis does play a significant role in degenerative diseases and ageing... - Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart/muscle isoform of the adenine nucleotide translocatorD G Murdock
Center for Molecular Medicine, Emory University School for Medicine, Atlanta, Georgia 30322, USA
J Biol Chem 274:14429-33. 1999..These results indicate that identification of genes up-regulated in the skeletal muscle of the Ant1-deficient mouse provides a novel method for identifying mammalian genes required for mitochondrial biogenesis... - Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutationM D Brown
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
J Biol Chem 275:39831-6. 2000..These studies represent the first direct comparison of oxidative phosphorylation defects among all of the primary LHON mtDNA mutations, thus permitting insight into the underlying pathophysiological mechanism of the disease... - Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON familiesM D Brown
Center for Molecular Medicine, Emory University School of Medicine, 420 B Dental Building, 1462 Clifton Road N E, Atlanta, GA 30322, USA
Hum Genet 109:33-9. 2001.... - Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseasesM D Brown
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322
FASEB J 6:2791-9. 1992..The occurrence of such genotypes supports the hypothesis that LHON may result from the additive effects of various genetic and environmental insults to OXPHOS, each of which increases the probability of blindness... - Classification of European mtDNAs from an analysis of three European populationsA Torroni
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Genetics 144:1835-50. 1996.... - Expression and sequence analysis of the mouse adenine nucleotide translocase 1 and 2 genesS E Levy
Emory University School of Medicine, Center for Molecular Medicine, Atlanta, GA 30322, USA
Gene 254:57-66. 2000..These discrepancies indicate that additional studies will be required to fully understand the transcriptional regulation of both Ant1 and Ant2... - De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathyV Biousse
Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA
Neurology 49:1136-8. 1997..These data indicate that the 14484 mutation in this family was a new mutation, indicating that it was the de novo occurrence of a common, primary LHON mutation... - Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineageM D Brown
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Hum Genet 60:381-7. 1997.... - Immunocytochemical characterization of the mitochondrially encoded ND1 subunit of complex I (NADH : ubiquinone oxidoreductase) in rat brainE H Pettus
Department of Neurology, Center for Molecular Medicine, Yerkes Regional Primate Research Center, Emory University, Atlanta, Georgia, USA
J Neurochem 75:383-92. 2000..This antibody should provide a valuable tool for assessing complex I in normal and pathological conditions... - Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystoniaA S Jun
Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia, USA
Mol Cell Biol 16:771-7. 1996..Furthermore, specific activity was inhibited by increasing concentrations of the reduced coenzyme Q analog decylubiquinol. These observations suggest that the np 14459 mutation may alter the coenzyme Q-binding site of complex I... - Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathyR G Ortiz
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia
Am J Ophthalmol 113:561-6. 1992..While the clinical significance of this magnitude of corrected QT prolongation is unknown, it may represent a systemic manifestation of the 11778 mutation. No electrocardiographic evidence of preexcitation syndromes was seen... - Mouse models for mitochondrial diseaseD C Wallace
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Am J Med Genet 106:71-93. 2001..The importance of mitochondrial ROS in degenerative diseases and aging was confirmed by treating Sod2 -/- mice and C. elegans with catalytic antioxidant drugs... - mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America?M D Brown
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA, USA
Am J Hum Genet 63:1852-61. 1998..To date, haplogroup X has not been unambiguously identified in Asia, raising the possibility that some Native American founders were of Caucasian ancestry... - Mitochondrial DNA variation in human evolution and diseaseD C Wallace
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
Gene 238:211-30. 1999.... - Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutationsM D Brown
Center for Molecular Medicine, Emory University School of Medicine, 420 B Dental Building, 1462 Clifton Road N E, Atlanta, GA 30322, USA
Am J Med Genet 104:331-8. 2001..Remarkably, spontaneous vision recovery occurred in the proband, highlighting the complexities encountered when associating mtDNA genotype and complex I function with LHON expression... - Mitochondrial defects in neurodegenerative diseaseD C Wallace
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia, USA
Ment Retard Dev Disabil Res Rev 7:158-66. 2001.... - A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutaseS Melov
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Nat Genet 18:159-63. 1998..Consequently, MnTBAP-treated Sod2tm1Cje(-/-) mice may provide an excellent model for examining the relationship between free radicals and neurodegenerative diseases and for screening new drugs to treat these disorders... - Genetic epidemiologic methods to screen for matrilineal inheritance in mitochondrial disordersF Mili
Department of Epidemiology, Rollins School of Public Health, Emory University, Atlanta, GA 30322, USA
Genet Epidemiol 13:605-14. 1996..To illustrate our epidemiologic method, we apply our screening method to pedigrees of two disorders which have been proposed to have a mitochondrial DNA component to their inheritance... - Accumulation of mitochondrial DNA deletions in the malignant prostate of patients of different agesB C Jessie
Winship Cancer Institute, 1365B Clifton Road, NE, Atlanta, GA 30322, USA
Exp Gerontol 37:169-74. 2001..e. deletions). In particular, one prominent band was seen at 1.2kb and became more consistent with advanced age... - A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocatorB H Graham
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Nat Genet 16:226-34. 1997..Significantly, mutant adults manifested severe exercise intolerance. Therefore, Ant1 mutant mice have the biochemical, histological, metabolic and physiological characteristics of mitochondrial myopathy and cardiomyopathy... - Mitochondria and cancer: Warburg addressedD C Wallace
Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG, Department of Biological Chemistry, University of California at Irvine, 92697-3940, USA
Cold Spring Harb Symp Quant Biol 70:363-74. 2005..The increased ROS mutagenizes nuclear proto-oncogenes (initiation) and drives nuclear replication (promotion), resulting in cancer. Therefore, hexokinase II and mitochondrial ROS may be useful alternate targets for cancer therapeutics... - DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear geneV M Pratt
Am J Hum Genet 61:231-3. 1997 - Mitochondrial mutations in cancerM Brandon
Center for Molecular and Mitochondrial Medicine and Genetics (MAMMAG) and Institute for Genomics and Bioinformatics, University of California at Irvine, Irvine, CA 92697-3940, USA
Oncogene 25:4647-62. 2006..Hence, mitochondrial dysfunction does appear to be a factor in cancer etiology, an insight that may suggest new approaches for diagnosis and treatment... - [Spectrum of pathogenic mtDNA mutations in Leber hereditary optic neuropathy families from Siberia]E B Starikovskaia
Genetika 42:89-97. 2006.... - Adeno-associated virus-mediated gene transfer of the heart/muscle adenine nucleotide translocator (ANT) in mouseA Flierl
MAMMAG, University of California, Irvine, CA 92697-3940, USA
Gene Ther 12:570-8. 2005..Thus, AAV transduction has the potential of providing symptomatic relief for the ophthalmoplegia and ptosis resulting from paralysis of the extraocular eye muscles cause by mutations in the Ant1 gene... - mtDNA variation, climatic adaptation, degenerative diseases, and longevityD C Wallace
Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, California 92697-3940, USA
Cold Spring Harb Symp Quant Biol 68:479-86. 2003 - A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutationH D Vallance
Department of Pathology, Children's and Women's Health Centre of BC, University of British Columbia, 4500 Oak Street, Vancouver, British Columbia, V6H 3 N1, Canada
Pediatr Cardiol 25:538-40. 2004..To our knowledge, this is the first description of the A8344G mtDNA mutation presenting as a sporadic case of fatal infantile cardiomyopathy and the first occurrence of this mutation associated with histiocytoid cardiomyopathy... - Targeted delivery of DNA to the mitochondrial compartment via import sequence-conjugated peptide nucleic acidA Flierl
Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, 2122 Natural Sciences I, Irvine, California 92697-3940, USA
Mol Ther 7:550-7. 2003..Our method now promises to provide a viable strategy for the genetic modification of the mitochondria in cultured cells, animals and patients... - [Mitochondrial DNA variation in Kets and Nganasans and the early peoples of Northern Eurasia]O A Derbeneva
Institute of Cytology and Genetics, Russian Academy of Sciences, Novosibirsk, 630090 Russia
Genetika 38:1554-60. 2002.... - Sequence analysis of cDNAs for the human and bovine ATP synthase beta subunit: mitochondrial DNA genes sustain seventeen times more mutationsD C Wallace
Department of Biochemistry, Emory University Medical School, Atlanta, GA 30322
Curr Genet 12:81-90. 1987..Thus, the high substitution mutation rate and strong selective constraints of mammalian mtDNA proteins suggest that mtDNA mutations may result in a disproportionately large number of human hereditary diseases of OXPHOS... - cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genesN Neckelmann
Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322
Proc Natl Acad Sci U S A 84:7580-4. 1987..This suggests that the mitochondrial DNA genes are highly prone to deleterious mutations... - Lifespan extension and rescue of spongiform encephalopathy in superoxide dismutase 2 nullizygous mice treated with superoxide dismutase-catalase mimeticsS Melov
Buck Institute for Age Research, Novato, California 94945, USA
J Neurosci 21:8348-53. 2001.... - Assignment of an oligomycin-resistance locus to human chromosome 10K A Webster
Department of Genetics, School of Medicine, Stanford University, California 94305, USA
Somatic Cell Genet 8:223-44. 1982..The study assigns an ATPase oligomycin-resistance locus to human chromosome 10 and suggests that mouse and human subunits can combine in a functional enzyme complex... - Mitochondrial DNA variation in an aboriginal Australian population: evidence for genetic isolation and regional differentiationK Huoponen
Laboratory of Genetics, Department of Biology, University of Turku, Turku, Finland
Hum Immunol 62:954-69. 2001..Overall, the mt-DNA data corroborate the genetic uniqueness of Aboriginal Australian populations... - Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategyS Bannwarth
Department of Medical Genetics, Archet 2 Hospital, CHU Nice, France
Mitochondrion 8:136-45. 2008..We also confirm that mtDNA polymorphisms are frequently found in a heteroplasmic state (15 different polymorphisms were identified among which five were novel)...