A huntingtin peptide inhibits polyQ-huntingtin associated defects. [PDF]
PLoS ONE, 2013 Huntington's disease (HD) is caused by the abnormal expansion of the polyglutamine tract in the human Huntingtin protein (polyQ-hHtt). Although this mutation behaves dominantly, huntingtin loss of function also contributes to HD pathogenesis.
Yoan Arribat +5 more
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Quantifying mutant huntingtin protein in human cerebrospinal fluid to support the development of huntingtin-lowering therapies. [PDF]
Sci Rep, 2023 Huntington’s disease (HD) is caused by a cytosine adenine guanine-repeat expansion in the huntingtin gene. This results in the production of toxic mutant huntingtin protein (mHTT), which has an elongated polyglutamine (polyQ) stretch near the protein’s N-
Vauleon S +8 more
europepmc +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
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
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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
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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
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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
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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
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Emerging Therapies for Huntington’s Disease – Focus on N-Terminal Huntingtin and Huntingtin Exon 1
Biologics: Targets & Therapy, 2022 M Leontien van der Bent, Melvin M Evers, Astrid Vallès uniQure biopharma B.V., Department of Research and Development, Amsterdam, the NetherlandsCorrespondence: Astrid Vallès, uniQure biopharma B.V, Postbus 22506, Amsterdam, 1100 DA, the Netherlands, Tel
van der Bent ML, Evers MM, Vallès A
doaj
The Ubiquitin-Proteasome Pathway in Huntington's Disease
The Scientific World Journal, 2008 The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Siddhartha Mitra, Steven Finkbeiner
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