Molecular Neurodegeneration, 2009 Background Expansion of a polyglutamine repeat at the amino-terminus of huntingtin is the probable cause for Huntington's disease, a lethal progressive autosomal-dominant neurodegenerative disorders characterized by impaired motor performance and severe ...
Paganetti Paolo +2 more
doaj +1 more source
The Huntington's disease mutation impairs Huntingtin's role in the transport of NF-κB from the synapse to the nucleus [PDF]
, 2010 Expansion of a polyglutamine (polyQ) tract in the Huntingtin (Htt) protein causes Huntington's disease (HD), a fatal inherited neurodegenerative disorder.
Baquet +74 more
core +4 more sources
The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington’s disease [PDF]
, 2020 Objective Compromised brain cholesterol turnover and altered regulation of brain cholesterol metabolism have been allied with some neurodegenerative diseases, including Huntington’s disease (HD).
Alves, Sandro +12 more
core +1 more source
Imbalance of p75(NTR)/TrkB protein expression in Huntington's disease: Implication for neuroprotective therapies [PDF]
, 2013 Neuroprotective therapies based on brain-derived neurotrophic factor (BDNF) administration have been proposed for Huntington's disease (HD) treatment. However, our group has recently reported reduced levels of TrkB in HD mouse models and HD human brain ...
Alberch, J. +5 more
core +1 more source
Clearance of mutant huntingtin [PDF]
Autophagy, 2010 Mutant huntingtin (htt) carries an expanded polyglutamine (polyQ) repeat (> 36 glutamines) in its N-terminal region, which leads htt to become misfolded and kill neuronal cells in Huntington disease (HD). The cytotoxicity of N-terminal mutant htt fragments is evident by severe neurological phenotypes of transgenic mice that express these htt fragments.
Xiao-Jiang, Li, He, Li, Shihua, Li
openaire +2 more sources
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
doaj +1 more source
Intrabodies Binding the Proline-Rich Domains of Mutant Huntingtin Increase Its Turnover and Reduce Neurotoxicity [PDF]
, 2008 Although expanded polyglutamine (polyQ) repeats are inherently toxic, causing at least nine neurodegenerative diseases, the protein context determines which neurons are affected.
Bugg, Charles W. +5 more
core +2 more sources
Cysteine String Protein Controls Two Routes of Export for Misfolded Huntingtin
Frontiers in Neuroscience, 2022 Extracellular vesicles (EVs) are secreted vesicles of diverse size and cargo that are implicated in the cell-to-cell transmission of disease-causing-proteins in several neurodegenerative diseases.
Desmond Pink +4 more
doaj +1 more source
Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. [PDF]
, 2015 Quantification of disease-associated proteins in the cerebrospinal fluid (CSF) has been critical for the study and treatment of several neurodegenerative disorders; however, mutant huntingtin protein (mHTT), the cause of Huntington's disease (HD), is at ...
Andreas Weiss +16 more
core +1 more source
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
doaj +1 more source