Results 41 to 50 of about 28,868 (258)

Huntingtin in health and disease [PDF]

Journal of Clinical Investigation, 2003
After linkage of the Huntington disease (HD) gene was found in 1983, it took ten years of work by an international group to identify the mutation in the gene interesting transcript 15 (IT15) that causes the disease (1, 2). HD is an autosomal dominant inherited neurodegenerative disease that becomes manifest in midlife and causes progressive motor ...
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Huntingtin: Here, There, Everywhere!

Journal of Huntington's Disease, 2013
Huntingtin is the protein mutated in Huntington disease, a dominant inherited neurodegenerative disorder. Huntingtin is ubiquitously expressed throughout the body, however its role outside the central nervous system has been overlooked. This review focuses on the peripheral distribution of huntingtin.
Sandrine Humbert, Cristovao Marques Sousa   +1 more
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The localization and interactions of huntingtin [PDF]

Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 1999
Huntingtin was localized by using a series of antibodies that detected different areas of the protein from the immediate N–terminus to the C–terminal region of the protein. The more C–terminal antibodies gave a cytoplasmic localization in neurons of the brain in controls and cases of Huntington'sdisease (HD).
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Stimulation of NeuroD activity by huntingtin and huntingtin-associated proteins HAP1 and MLK2 [PDF]

Proceedings of the National Academy of Sciences, 2003
NeuroD (ND) is a basic helix–loop–helix transcription factor important for neuronal development and survival. By using a yeast two-hybrid screen, we identified two proteins that interact with ND, huntingtin-associated protein 1 (HAP1) and mixed-lineage kinase 2 (MLK2), both of which are known to interact with huntingtin (Htt).
Katherine Gowan, Jacqueline E. Lee, Edoardo Marcora   +2 more
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Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease

BMC Biology, 2018
Background Huntington disease (HD) is a fatal neurodegenerative disorder caused by a CAG expansion in the huntingtin (HTT) gene, leading to selective and progressive neuronal death predominantly in the striatum. Mutant HTT expression causes dysfunctional
Mandi E. Schmidt, Caodu Buren, James P. Mackay, Daphne Cheung, Louisa Dal Cengio, Lynn A. Raymond, Michael R. Hayden   +6 more
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Truncation of mutant huntingtin in knock-in mice demonstrates exon1 huntingtin is a key pathogenic form

Nature Communications, 2020
Polyglutamine expansion in proteins can cause selective neurodegeneration, although the mechanisms are not fully understood. In Huntington’s disease (HD), proteolytic processing generates toxic N-terminal huntingtin (HTT) fragments that preferentially ...
Huiming Yang, Su Yang, Liang Jing, Luoxiu Huang, Luxiao Chen, Xianxian Zhao, Weili Yang, Yongcheng Pan, Peng Yin, Zhaohui S. Qin, Shihua Li, Xiao-Jiang Li   +11 more
semanticscholar   +1 more source

Mutant Huntingtin Promotes the Fibrillogenesis of Wild-type Huntingtin [PDF]

Journal of Biological Chemistry, 2003
Aggregation of huntingtin (htt) in neuronal inclusions is associated with the development of Huntington's disease (HD). Previously, we have shown that mutant htt fragments with polyglutamine (polyQ) tracts in the pathological range (>37 glutamines) form SDS-resistant aggregates with a fibrillar morphology, whereas wild-type htt fragments with normal ...
Hans Lehrach, Rudi Lurz, Sabine Engemann, Hitoshi Okazawa, Anne Busch, Erich E. Wanker   +5 more
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Safe and Efficient Silencing with a Pol II, but Not a Pol lII, Promoter Expressing an Artificial miRNA Targeting Human Huntingtin

Molecular Therapy: Nucleic Acids, 2017
Huntington’s disease is a devastating, incurable neurodegenerative disease affecting up to 12 per 100,000 patients worldwide. The disease is caused by a mutation in the Huntingtin (Htt) gene.
Edith L. Pfister, Kathryn O. Chase, Huaming Sun, Lori A. Kennington, Faith Conroy, Emily Johnson, Rachael Miller, Florie Borel, Neil Aronin, Christian Mueller   +9 more
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Integrated genomics and proteomics to define huntingtin CAG length-dependent networks in HD Mice

Nature Neuroscience, 2016
To gain insight into how mutant huntingtin (mHtt) CAG repeat length modifies Huntington's disease (HD) pathogenesis, we profiled mRNA in over 600 brain and peripheral tissue samples from HD knock-in mice with increasing CAG repeat lengths.
P. Langfelder, J. Cantle, Doxa Chatzopoulou, Nan Wang, Fuying Gao, I. Al-Ramahi, Xiao-Hong Lu, E. Ramos, Karla El-Zein, Yining Zhao, Sandeep Deverasetty, A. Tebbe, C. Schaab, Daniel J. Lavery, D. Howland, S. Kwak, J. Botas, J. Aaronson, J. Rosinski, G. Coppola, S. Horvath, X. W. Yang   +21 more
semanticscholar   +1 more source

NUB1 snubs huntingtin toxicity [PDF]

Nature Neuroscience, 2013
A screen now identifies a protein that regulates degradation of mutant huntingtin, which causes Huntington's disease, and manipulations show that promoting clearance of the toxic protein itself may be sufficient to halt disease.
Andrey S. Tsvetkov, Steven Finkbeiner, Steven Finkbeiner, Rebecca Aron   +3 more
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