| | |  | | | | Record from Web of Science® | | | | | | |
| Huntington's disease: Translating a CAG repeat into a pathogenic mechanism |
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| Author(s): MacDonald ME, Gusella JF |
| Source: CURRENT OPINION IN NEUROBIOLOGY Volume: 6 Issue: 5 Pages: 638-643 Published: OCT 1996 |
| Times Cited: 62 References: 45 |
| Abstract: The specific pattern of neuronal cell death in Huntington's disease (HD) is triggered by an abnormal version of the huntingtin protein, which is produced by translation of the HD gene defect, an expanded CAG repeat in a novel 4p16.3 gene. The extended amino-terminal polyglutamine segment may act via the protein's inherent activity, increasing ii or decreasing it in a graded fashion, or, alternatively, it may confer the ability to interact with a completely different set of cellular pathways, focusing attention on the HD protein's normal and abnormal physiological functions. |
| Document Type: Article |
| Language: English |
| Reprint Address: MacDonald, ME (reprint author), MASSACHUSETTS GEN HOSP EAST, MOL NEUROGENET UNIT, BLDG 149, ROOM 6115, CHARLESTOWN, MA 02129 USA |
| Publisher: CURRENT BIOLOGY LTD, 34-42 CLEVELAND STREET, LONDON, ENGLAND W1P 6LB |
| Subject Category: Neurosciences |
| IDS Number: VR586 |
| ISSN: 0959-4388 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |