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Trends Genet. 2003 May;19(5):233-8.

Transcriptional abnormalities in Huntington disease.

Author information

1
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome Trust/Medical Research Council Building, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 2XY, UK.

Abstract

Huntington disease (HD) is caused by a CAG repeat expansion that is translated into an abnormally long polyglutamine (polyQ) tract in the huntingtin protein. The precise mechanisms leading to neurodegeneration in HD have not been fully elucidated, but alterations in gene transcription could well be involved because the activities of several nuclear proteins are compromised by the polyQ mutation. Recent microarray studies also show relevant changes in gene expression profiles in HD models, providing useful information on the potential consequences of disrupted transcriptional pathways in HD.

PMID:
12711212
DOI:
10.1016/S0168-9525(03)00074-X
[Indexed for MEDLINE]

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