Results 21 to 30 of about 27,528 (227)
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 ...
Anne Busch +5 more
openaire +4 more sources
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
Innovative approaches to monitor mutant huntingtin and to facilitate its degradation in Huntington's disease models [PDF]
, 2011 Huntington’s disease (HD) is a dominant genetic neurodegenerative disease caused by a mutation in the exon 1 of the huntingtin gene. The clinical symptoms, such as motor disturbances (chorea), cognitive decline and psychiatric impairments are usually ...
Baldo, Barbara
core +1 more source
Frontiers in Molecular Biosciences, 2021 Post-translational modifications (PTMs) within the first 17 amino acids (Nt17) of the Huntingtin protein (Htt) have been shown to inhibit the aggregation and attenuate the toxicity of mutant Htt proteins in vitro and in various models of Huntington’s ...
Anass Chiki +10 more
doaj +1 more source
Evidence for dynamic and multiple roles for huntingtin in Ciona intestinalis [PDF]
, 2013 Although mutations in the huntingtin gene (HTT) due to poly-Q expansion cause neuropathology in humans (Huntington’s disease; HD), the normal function(s) of the gene and its protein (HTT) remain obscure.
Idris, Mohammed M +5 more
core +1 more source
Disease Models & Mechanisms, 2014 Huntingtin is a large membrane-associated scaffolding protein that associates with endocytic and exocytic vesicles and modulates their trafficking along cytoskeletal tracks. Although the progression of Huntington’s disease is linked to toxic accumulation
Hemma Brandstaetter +2 more
doaj +1 more source
Mutant huntingtin impairs the post-Golgi trafficking of brain-derived neurotrophic factor but not its Val66Met polymorphism. [PDF]
, 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
core +1 more source
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
Novel methods and therapeutic approaches of diagnosis and treatment of Huntington's disease [PDF]
, 2008 Huntington’s Disease is a neurodegenerative disorder characterized by motor dysfunction, emotional disturbance, dementia and weight loss. The disorder is caused by an autosomal dominant expansion of a CAG repeat encoding for a polyglutamine stretch in ...
Weiss, Andreas
core +1 more source
Live axonal transport disruption by mutant huntingtin fragments in Drosophila motor neuron axons [PDF]
, 2009 Huntington's Disease is a neurodegenerative condition caused by a polyglutamine expansion in thehuntingtin (Htt) protein, which aggregates and also causes neuronal dysfunction. Pathogenic N-terminal httfragments perturb axonal transport in vitro.
Burbidge-King, T. +13 more
core +1 more source