Results 31 to 40 of about 19,301 (228)

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

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, Antonina J. Kruppa, Folma Buss   +2 more
doaj   +1 more source

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

PLoS 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, Maria Jose Casarejos, Jose López Sendon, Juan Garcia Caldentey, Carolina Ruiz, Ana Gomez, Juan Perucho, Justo García de Yebenes, Maria Angeles Mena   +8 more
doaj   +1 more source

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

Biomedicines, 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, Noman Bin Abid, Hiroko Yano   +2 more
doaj   +1 more source

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
doaj   +1 more source

ER stress-induced eIF2-alpha phosphorylation underlies sensitivity of striatal neurons to pathogenic huntingtin.

PLoS ONE, 2014
A hallmark of Huntington's disease is the pronounced sensitivity of striatal neurons to polyglutamine-expanded huntingtin expression. Here we show that cultured striatal cells and murine brain striatum have remarkably low levels of phosphorylation of ...
Julia Leitman, Boaz Barak, Ron Benyair, Marina Shenkman, Uri Ashery, F Ulrich Hartl, Gerardo Z Lederkremer   +6 more
doaj   +1 more source

Modulation of Huntingtin Toxicity by BAG1 is Dependent on an Intact BAG Domain

Molecules, 2010
Huntington´s disease, one of the so-called poly-glutamine diseases, is a dominantly inherited movement disorder characterized by formation of cytosolic and nuclear inclusion bodies and progressive neurodegeneration.
Mathias Bähr, Pawel Kermer, Sebastian Deeg, Christoph P. Dohm, Kamila Sroka, Jan Liman   +5 more
doaj   +1 more source

Huntingtin Subcellular Localisation Is Regulated by Kinase Signalling Activity in the StHdhQ111 Model of HD.

PLoS ONE, 2015
Huntington's disease is a neurodegenerative disorder characterised primarily by motor abnormalities, and is caused by an expanded polyglutamine repeat in the huntingtin protein.
Kathryn R Bowles, Simon P Brooks, Stephen B Dunnett, Lesley Jones   +3 more
doaj   +1 more source

The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor

BMC Neuroscience, 2002
Background Huntington's disease (HD) pathogenesis is due to an expanded polyglutamine tract in huntingtin, but the specificity of neuronal loss compared with other polyglutamine disorders also implies a role for the protein's unknown inherent function ...
Gusella James F, Takano Hiroki
doaj   +1 more source

No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington’s disease

Acta Neuropathologica Communications, 2020
Prominent features of HD neuropathology are the intranuclear and cytoplasmic inclusions of huntingtin and striatal and cortical neuronal cell death.
Ting-Ting Huang, Ruben Smith, Karl Bacos, Dong-Yan Song, Richard M. Faull, Henry J. Waldvogel, Jia-Yi Li   +6 more
doaj   +1 more source