Huntingtin (htt), the protein encoded by the Huntington's disease gene (HD), contains a polymorphic stretch of glutamines (polyQ) and a proline-rich region (PRR) near its amino terminus. When the polyQ stretch is expanded beyond 37Q, HD results. To determine the contribution of the polyQ...
Huntingtin Is Present in the Nucleus, Interacts with the Transcriptional Corepressor C-terminal Binding Protein, and Represses Transcription Huntingtin is a protein of unknown function that contains a polyglutamine tract, which is expanded in patients with Huntington's disease (HD). We investiga... ...
Huntington's disease (HD) is a neurodegenerative disorder caused by the toxic expansion of polyglutamine in the Huntingtin (HTT) protein. The pathomechanism is complex and not fully understood. Increasing evidence indicates that the loss of normal protein function also contributes to the pathogenesis,...
The huntingtin (HTT) protein in its mutant form is the cause of the inherited neurodegenerative disorder, Huntington's disease. Beyond its effects in the central nervous system, disease-associated mutant HTT causes aberrant phenotypes in myeloid-lineage innate immune system cells, namely monocytes and...
may participate in substrate recruitment and regulation.51The fusion of ankyrin repeats to the N-terminus of DHHC3 endows DHHC3 with the ability to regulate the S-palmitoylation of huntingtin proteins and their trafficking, which would otherwise not occur.51Although enzyme functional and substrate red...
The genetic basis of HD is a polyglutamine (polyQ) repeat expansion near the N-terminus of the huntingtin (htt) protein [269]. A repeat expansion of greater than 36Q is causative of disease, and like in other repeat disorders, greater repeat lengths correlate with earlier disease onset [268...
Htt is greatly enhanced in the presence of the small GTPase, Rhes, a protein of unclear function that has a preferential expression in the striatum. Th... L Galvan,E Brouillet - 《Future Neurology》 被引量: 0发表: 2009年 Rhes, a Striatal Specific Protein, Mediates Mutant-Huntingtin Cytoto...
Our results strongly suggest that in HCC, contrary to expectation, the loss of function of Axin1 is not equivalent to the gain of function of beta-... J Zucman-Rossi,S Benhamouche,C Godard,... - 《Oncogene》 被引量: 811发表: 2007年 Neuropathogenic forms of huntingtin and androgen recep...
(2001), and Walker (2007) studies, HD is brought on by a CAG polyglutamine expansion (greater than 35), which results in mutant Huntingtin protein and neuron damage in the basal ganglion (Zarotti et al., 2020). The incidence of HD in the world varies from 5.96 to 13.7 per 100,000 ...
The mutant protein may confer a toxic gain of function. However, a loss of function of the normal huntingtin protein may also con- tribute to cause striatal and extra-striatal, e.g. cortical, neurodegeneration in HD. The neurodegenerative process in HD affects white and grey matter2, and ...