Results 41 to 50 of about 22,598 (233)
Effects of overexpression of Huntingtin proteins on mitochondrial integrity [PDF]
Human Molecular Genetics, 2008 Huntington's disease (HD) is caused by an expansion of a CAG trinucleotide sequence that encodes a polyglutamine tract in the huntingtin (Htt) protein. Expansion of the polyglutamine tract above 35 repeats causes disease, with the age of onset inversely related to the degree of expansion above this number.
Hongmin, Wang +3 more
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Neural Regeneration Research, 2021 A review of recent animal models of Huntington’s disease showed many microRNAs had altered expression levels in the striatum and cerebral cortex, and which were mostly downregulated.
Bridget Martinez, Philip V Peplow
doaj +1 more source
Expression of expanded polyglutamine targets profilin for degradation and alters actin dynamics
Neurobiology of Disease, 2008 Huntington's disease is caused by polyglutamine expansion in the huntingtin protein. Huntingtin directly interacts with profilin, a major actin monomer sequestering protein and a key integrator of signals leading to actin polymerization.
Barrington G. Burnett +4 more
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eLife, 2016 The polyglutamine expansion in huntingtin protein causes Huntington’s disease. Here, we investigated structural and biochemical properties of huntingtin and the effect of the polyglutamine expansion using various biophysical experiments including ...
Ravi Vijayvargia +13 more
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Acta Neuropathologica Communications, 2020 Prominent features of HD neuropathology are the intranuclear and cytoplasmic inclusions of huntingtin and striatal and cortical neuronal cell death.
Ting-Ting Huang +6 more
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HDAC4 reduction: a novel therapeutic strategy to target cytoplasmic huntingtin and ameliorate neurodegeneration. [PDF]
PLoS Biology, 2013 Histone deacetylase (HDAC) 4 is a transcriptional repressor that contains a glutamine-rich domain. We hypothesised that it may be involved in the molecular pathogenesis of Huntington's disease (HD), a protein-folding neurodegenerative disorder caused by ...
Michal Mielcarek +20 more
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Huntingtin associated protein 1 and its functions [PDF]
Cell Adhesion & Migration, 2009 Huntington disease (HD) is caused by a polyglutamine expansion in the protein huntingtin (Htt). Several studies suggest that Htt and huntingtin associated protein 1 (HAP1) participate in intracellular trafficking and that polyglutamine expansion affects vesicular transport.
Zhou, Xin-Fu, Wu, Linyan
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Nature Communications, 2021 The mechanisms underlying Huntingtin protein (Htt) aggregation are not fully understood. Here the authors perform a detailed investigation of the ultrastructural and biochemical properties of huntingtin cytoplasmic and nuclear inclusions, and reveal that
Nathan Riguet +11 more
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, 2013 Brain-derived neurotrophic factor (BDNF) polymorphism is associated with the pathophysiology of several neurodegenerative disorders, including Huntington"s disease.
Toro Ruiz, Daniel del +5 more
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Huntingtin Regulates Mammary Stem Cell Division and Differentiation
Stem Cell Reports, 2014 Little is known about the mechanisms of mitotic spindle orientation during mammary gland morphogenesis. Here, we report the presence of huntingtin, the protein mutated in Huntington’s disease, in mouse mammary basal and luminal cells throughout ...
Salah Elias +6 more
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