PMID: 8580718Oct 1, 1995Paper

Huntington's disease: CAG genetics expands neurobiology

Current Opinion in Neurobiology
J F Gusella, M E MacDonald

Abstract

Huntington's disease, with its progressive uncontrolled movements and characteristic selective neuropathology, has represented a baffling enigma to geneticists and neurobiologists alike. Discovery of the HD gene and its defect has demystified the genetic aspects of the disorder, but has not yet explained its pathogenesis. Attempts to explore this issue suggest that the defect acts as a gain of function, conferring a new deleterious property on the huntingtin protein, and that the gene's normal function may be irrelevant to the disease process.

References

Nov 1, 1985·Journal of Neuropathology and Experimental Neurology·J P VonsattelE P Richardson
Jul 21, 1995·Science·M P DuyaoA L Joyner
Apr 1, 1995·Journal of Medical Genetics·S BohlegaE Bakker
Oct 3, 1994·Brain Research·L S DureE D Bird
Nov 1, 1994·Journal of Medical Genetics·K KieburtzJ Gusella
Mar 1, 1995·Human Genetics·K E De RooijJ T Den Dunnen
Oct 1, 1994·Annals of Neurology·S N IllarioshkinI A Ivanova-Smolenskaya
Mar 1, 1994·Somatic Cell and Molecular Genetics·G T BarnesM E MacDonald
Dec 1, 1993·Human Molecular Genetics·A T HoogeveenH Galjaard
Dec 1, 1993·Journal of Medical Genetics·D Craufurd, A Dodge
Dec 1, 1993·Journal of Medical Genetics·M E MacDonaldJ Penney
Jan 1, 1994·Somatic Cell and Molecular Genetics·Christine M AmbroseMarcy E MacDonald
Jun 1, 1994·Neurology·T AshizawaJ Jankovic
Oct 1, 1993·Nature Genetics·R H MyersW L Whaley
Jan 1, 1996·Annual Review of Medicine·J F Gusella, M E MacDonald

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Citations

Apr 5, 2001·Journal of Neuroscience Research·A W Deckel
Oct 1, 1996·Current Opinion in Neurobiology·M E MacDonald, J F Gusella
May 17, 2000·Proceedings of the National Academy of Sciences of the United States of America·S H SatyalR I Morimoto
Jan 6, 1999·Proceedings of the National Academy of Sciences of the United States of America·P W FaberA C Hart
Dec 22, 2007·Journal of Neurology, Neurosurgery, and Psychiatry·J S PaulsenUNKNOWN Predict-HD Investigators and Coordinators of the Huntington Study Group
Jun 3, 2005·The Journal of Clinical Investigation·Lars Bertram, Rudolph E Tanzi
Sep 18, 2013·Internal Medicine·Atsushi IwataShoji Tsuji
May 9, 2014·Cell Biochemistry and Biophysics·Pradip K KamatNeetu Tyagi
Sep 24, 2008·Revue neurologique·E RozeJ Caboche
Mar 15, 2006·Annals of the New York Academy of Sciences·Stephen C Meredith
Sep 26, 2013·The International Journal of Neuropsychopharmacology·Brian DeanMark J Millan
Sep 2, 1998·Current Opinion in Neurology·A Feigin
Dec 14, 2018·Current Computer-aided Drug Design·Anum MunirKhalid Akhtar Malik
Jun 23, 2020·Biological Reviews of the Cambridge Philosophical Society·Yujung ChangJongpil Kim
Oct 23, 2019·International Journal of Molecular Medicine·Miriam CarboVeronica Morea
Apr 29, 2010·The Journal of Biological Chemistry·Srinivasa SubramaniamSolomon H Snyder
Apr 14, 2021·CNS & Neurological Disorders Drug Targets·Iqra Subhan, Yasir Hasan Siddique
Jan 1, 1996·Annual Review of Medicine·J F Gusella, M E MacDonald

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