Results 21 to 30 of about 22,598 (233)

Huntingtin is required for ER-to-Golgi transport and for secretory vesicle fusion at the plasma membrane

open access: yesDisease 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

Brain-Derived Neurotrophic Factor Dysregulation as an Essential Pathological Feature in Huntington’s Disease: Mechanisms and Potential Therapeutics

open access: yesBiomedicines, 2023
Brain-derived neurotrophic factor (BDNF) is a major neurotrophin whose loss or interruption is well established to have numerous intersections with the pathogenesis of progressive neurological disorders.
Andrew Speidell   +2 more
doaj   +1 more source

Identification of Binding Sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L

open access: yesPLoS ONE, 2014
Huntington disease is an adult onset neurodegenerative disease characterized by motor, cognitive, and psychiatric dysfunction, caused by a CAG expansion in the HTT gene. Huntingtin Interacting Protein 14 (HIP14) and Huntingtin Interacting Protein 14-like (HIP14L) are palmitoyl acyltransferases (PATs), enzymes that mediate the post-translational ...
Shaun S Sanders   +3 more
openaire   +4 more sources

Metallothioneins and copper metabolism are candidate therapeutic targets in Huntington’s disease [PDF]

open access: yes, 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

Trehalose reverses cell malfunction in fibroblasts from normal and Huntington's disease patients caused by proteosome inhibition.

open access: yesPLoS ONE, 2014
Huntington's disease (HD) is a neurodegenerative disorder characterized by progressive motor, cognitive and psychiatric deficits, associated with predominant loss of striatal neurons and is caused by polyglutamine expansion in the huntingtin protein ...
Maria Angeles Fernandez-Estevez   +8 more
doaj   +1 more source

Live axonal transport disruption by mutant huntingtin fragments in Drosophila motor neuron axons [PDF]

open access: yes, 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

Advancing the functional understanding of the huntingtin-associated protein 40 (HAP40) in health and disease

open access: yes, 2023
Caused by a genetic mutation in the huntingtin (HTT) gene leading to an expansion of a polyglutamine tract, Huntington disease (HD) is a fatal, incurable, and autosomal-dominant inherited neurodegenerative disorder.
Seefelder, Manuel
core   +1 more source

Emerging Therapies for Huntington’s Disease – Focus on N-Terminal Huntingtin and Huntingtin Exon 1

open access: yesBiologics: 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

open access: yesThe 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
doaj   +1 more source

Huntington's disease: An immune perspective [PDF]

open access: yes, 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

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