Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years, several other distinct genetic disorders have been identified that can present with ...
Because of its full penetrance, carriers of the mutated huntingtin gene with more than 40 CAG repeats will inevitably develop the disease. This predictability might provide an opportunity for early intervention with the emergence of disease-modifying therapies to lower mutant huntingtin protein ...
Huntington's disease (HD) is a devastating hereditary neurodegenerative disorder caused by a CAG mutation within the IT15 gene encoding huntingtin protein. Even though mutant and normal huntingtin are ubiquitously expressed, the degenerative processes primarily occur within the striatum and particularly ...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook AcronymDefinition HAPIPHuntingtin Associated Protein Interacting Protein Copyright 1988-2018AcronymFinder.com, All rights reserved. Suggest new definition Want to thank TFD for its existence?Tell a friend about us, ad...
Neurodegenerative diseases typically involve deposits of inclusion bodies that contain abnormal aggregated proteins. Therefore, it has been suggested that protein aggregation is pathogenic. However, several lines of evidence indicate that inclusion bodie
Huntingtin interacting protein 14 (HIP14, ZDHHC17) is a huntingtin (HTT) interacting protein with palmitoyl transferase activity. In order to interrogate t... RR Singaraja,K Huang,SS Sanders,... - 《Human Molecular Genetics》 被引量: 128发表: 2011年 Palmitoylation of ATP-Binding Cassette Tran...
HD is caused by gene modification of CAG trinucleotide repeats expansion, resulting in pathological polyglutamine expansion in proteins, and leading to the accumulation of huntingtin aggregates [86, 113–115]. The toxicity of these aggregates in a Drosophila model correlated with changes in histone ...
or organ. Notably, the mtKeima reporter showed elevated mitophagy by hypoxia, mtDNA mutations and cancerous cells, but was reduced with age, a high-fat diet and expression of Huntingtin. While, there are still questions to address concerning how well these reporters mirror mitochondrial components...
a process known as mitophagy. The canonical mitophagy pathway is dependent on the actions of PINK1 (PTEN-induced putative kinase 1) and Parkin and has been well studied in immortalised cells and cultured neurons. However, evidence for a role of this mitophagy pathway in the brain is still limi...
Among the most promising is reducing expression of mutant huntingtin protein (mHTT) with RNA interference or antisense oligonucleotides; human trials are now being planned. Zinc-finger transcriptional repression is another innovative method to reduce mHTT expression. Modulation of mHTT phosphorylation, ...