Elucidating a normal function of huntingtin by functional and microarray analysis of huntingtin-null mouse embryonic fibroblasts
Open Access
- 15 April 2008
- journal article
- Published by Springer Nature in BMC Neuroscience
- Vol. 9 (1) , 38
- https://doi.org/10.1186/1471-2202-9-38
Abstract
The polyglutamine expansion in huntingtin (Htt) protein is a cause of Huntington's disease (HD). Htt is an essential gene as deletion of the mouse Htt gene homolog (Hdh) is embryonic lethal in mice. Therefore, in addition to elucidating the mechanisms responsible for polyQ-mediated pathology, it is also important to understand the normal function of Htt protein for both basic biology and for HD.Keywords
This publication has 43 references indexed in Scilit:
- Normal huntingtin function: an alternative approach to Huntington's diseaseNature Reviews Neuroscience, 2005
- Huntingtin–protein interactions and the pathogenesis of Huntington's diseaseTrends in Genetics, 2004
- Huntingtin: Alive and Well and Working in Middle ManagementScience's STKE, 2003
- Huntingtin Is Present in the Nucleus, Interacts with the Transcriptional Corepressor C-terminal Binding Protein, and Represses TranscriptionJournal of Biological Chemistry, 2002
- Cellular Localization of Huntingtin in Striatal and Cortical Neurons in Rats: Lack of Correlation with Neuronal Vulnerability in Huntington’s DiseaseJournal of Neuroscience, 1999
- Wild-Type and Mutant Huntingtins Function in Vesicle Trafficking in the Secretory and Endocytic PathwaysExperimental Neurology, 1998
- Heterogeneous Topographic and Cellular Distribution of Huntingtin Expression in the Normal Human NeostriatumJournal of Neuroscience, 1997
- Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxiasNature, 1995
- Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotesCell, 1995
- Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neuronsNeuron, 1995