M D Koob

Summary

Affiliation: University of Minnesota
Country: USA

Publications

  1. ncbi request reprint Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
    M D Koob
    Department of Neurology, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 18:72-5. 1998
  2. ncbi request reprint An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    M D Koob
    Department of Neurology, Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 21:379-84. 1999
  3. ncbi request reprint The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)
    J P Nemes
    Department of Neurology and Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Hum Mol Genet 9:1543-51. 2000
  4. ncbi request reprint Genetic mapping of a second myotonic dystrophy locus
    L P Ranum
    Department of Neurology and Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 19:196-8. 1998
  5. ncbi request reprint Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7
    M D Kaytor
    Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Hum Mol Genet 8:1657-64. 1999

Collaborators

  • J W Day
  • H T Orr
  • L P Ranum
  • J P Nemes
  • K A Benzow
  • M D Kaytor
  • M L Moseley
  • P J Skinner
  • L A Duvick
  • P F Rasmussen

Detail Information

Publications5

  1. ncbi request reprint Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA
    M D Koob
    Department of Neurology, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 18:72-5. 1998
    ..We have used this technique to clone the pathogenic SCA7 CAG expansion from an archived DNA sample of an individual affected with ataxia and retinal degeneration...
  2. ncbi request reprint An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
    M D Koob
    Department of Neurology, Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 21:379-84. 1999
    ..SCA8 patients have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patients. SCA8 is the first example of a dominant SCA not caused by a CAG expansion translated as a polyglutamine tract...
  3. ncbi request reprint The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)
    J P Nemes
    Department of Neurology and Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Hum Mol Genet 9:1543-51. 2000
    ..Transfection studies with epitope-tagged KLHL1 demonstrate that the protein localizes to the cytoplasm, suggesting that it may play a role in organizing the actin cytoskeleton of the brain cells in which it is expressed...
  4. ncbi request reprint Genetic mapping of a second myotonic dystrophy locus
    L P Ranum
    Department of Neurology and Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Nat Genet 19:196-8. 1998
    ..Understanding the common molecular features of two different forms of the disease should shed light on the mechanisms responsible for the broad constellation of seemingly unrelated clinical features present in both diseases...
  5. ncbi request reprint Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7
    M D Kaytor
    Institute of Human Genetics, University of Minnesota, Minneapolis 55455, USA
    Hum Mol Genet 8:1657-64. 1999
    ..Mutation of this NLS prevented protein from entering the nucleus. Thus, expanded ataxin-7 may carry out its pathogenic effects in the nucleus by altering a matrix-associated nuclear structure and/or by disrupting nucleolar function...