Results 21 to 30 of about 25,505 (239)
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
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
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
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
Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity [PDF]
Neurobiology of Disease, 2021 Abstract Huntington disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié +9 more
openaire +3 more sources
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
Metallothioneins and copper metabolism are candidate therapeutic targets in Huntington’s disease [PDF]
, 2010 HD (Huntington's disease) is caused by a polyQ (polyglutamine) expansion in the huntingtin protein, which leads to protein misfolding and aggregation of this protein. Abnormal copper accumulation in the HD brain was first reported more than 15 years ago.
Giorgini, Flaviano +18 more
core +1 more source
Huntington's disease: An immune perspective [PDF]
, 2011 Copyright © 2011 Annapurna Nayaketal. This article has been made available through the Brunel Open Access Publishing Fund.Huntington's disease (HD) is a progressive neurodegenerative disorder that is caused by abnormal expansion of CAG trinucleotide ...
Kishore, U +9 more
core +1 more source
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.
Cristovao, Marques Sousa +1 more
openaire +3 more sources