Huntington’s disease protein

Steffan JS, Kazantsev A, Spasic-Boskovic O, Greenwald M, Zhu YZ, Gohler H, et al. The Huntington s disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sri USA 2000 97(12) 6763—6768. 

Andrade MA, Bork P (1995) HEAT repeats in the Huntington s disease protein. Nat Genet 11 115—116. 

Tolttier Y, Devys D, Imbert G, Saudou G> An I, Lutz Y, et al. Protein cellular localization of the Huntington s disease protein and discrimination of the normal and mutated form. Nat Genet 1995 10 104-10. 

In Huntington s disease the polyglutamine repeat expansion in exon 1 of HD leads to a toxic gain of the protein huntingtin (htt). Harper et al. could show that siRNA directed against mutant human htt reduced htt iriRNA and protein expression in cell culture and in HD... 

Alzheimer s disease, Parkinson s disease, Huntington s disease and amyotrophic lateral sclerosis (ALS) are four prominent fatal neurodegenerative disorders that involve the death of specific populations of neurons (see details in respective chapters). Studies of patients and animal and culture models have provided considerable insight in the cellular and molecular mechanisms responsible for synaptic dysfunction and neuronal degeneration in each disorder [18], In Alzheimer s disease, abnormalities in proteolytic processing of the amyloid precursor protein, due to gene... 

Boutell JM, Thomas P, Neal JW, Weston VJ, Duce J, Harper PS, Jones AL (1999) Aberrant interactions of transcriptional repressor proteins with the Huntington s disease gene product, huntingtin. Hum Mol Genet 8(9) 1647-1655... 

Huntington s disease Abnormai nuciear inciusions of ubiquitinated proteins 430 ... 

Hay, D.G., Sathasivam, K., Tobaben, S., et al. (2004) Progressive decrease in chaperone protein levels in a mouse model of Huntington s disease and induction of stress proteins as a therapeutic approach. Hum. Mol. Genet., 13, 1389-1405. 

Li SH, Li XJ (2004) Huntingtin-protein interactions and the pathogenesis of Huntington s disease. Trends Genet 20 146-154. 

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