M D Brown

Summary

Affiliation: Emory University
Country: USA

Publications

  1. ncbi Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    M 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
  2. ncbi 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
  3. ncbi Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    M D Brown
    Center for Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322
    Genetics 130:163-73. 1992
  4. ncbi Mitochondrial DNA mutations in human degenerative diseases and aging
    D C Wallace
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
    Biochim Biophys Acta 1271:141-51. 1995
  5. ncbi A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    A 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
  6. ncbi Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team
    N J Newman
    Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia 30322
    Am J Ophthalmol 118:158-68. 1994
  7. ncbi Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
    M D Brown
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Hum Mutat 6:311-25. 1995
  8. ncbi Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families
    M 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
  9. ncbi A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
    M D Brown
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322
    Am J Hum Genet 51:378-85. 1992
  10. ncbi Molecular basis of mitochondrial DNA disease
    M D Brown
    Department of Genetics and Molecular Medicine, Atlanta, Georgia 30333
    J Bioenerg Biomembr 26:273-89. 1994

Detail Information

Publications17

  1. ncbi Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
    M 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
    ....
  2. ncbi 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...
  3. ncbi Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
    M D Brown
    Center for Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, Georgia 30322
    Genetics 130:163-73. 1992
    ....
  4. ncbi Mitochondrial DNA mutations in human degenerative diseases and aging
    D C Wallace
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
    Biochim Biophys Acta 1271:141-51. 1995
    ....
  5. ncbi A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    A 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
    ....
  6. ncbi Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team
    N 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...
  7. ncbi Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
    M 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...
  8. ncbi Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families
    M 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
    ....
  9. ncbi A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
    M 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...
  10. ncbi Molecular basis of mitochondrial DNA disease
    M D Brown
    Department of Genetics and Molecular Medicine, Atlanta, Georgia 30333
    J Bioenerg Biomembr 26:273-89. 1994
    ..In spite of its complexity, an understanding of the molecular basis of mitochondrial DNA disease will be essential as the first step toward rationale and permanent curative therapy...
  11. ncbi De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy
    V 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...
  12. ncbi 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 dystonia
    A 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...
  13. ncbi Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases
    M 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...
  14. ncbi Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
    J M Shoffner
    Department of Genetics and Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
    Ann Neurol 38:163-9. 1995
    ....
  15. ncbi Mitochondrial DNA variation in human evolution and disease
    D C Wallace
    Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA
    Gene 238:211-30. 1999
    ....
  16. ncbi Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation
    M 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...
  17. ncbi Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations
    M 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...