Results 21 to 30 of about 3,376,711 (176)

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

, 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

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

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

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

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, Domenico Marco Bonifati, Ansar, R, Verma, SK, Rafia Ansar, Nayak, A, Sunil K. Verma, Annapurna Nayak, Bonifati, DM, Uday Kishore   +9 more
core   +1 more source

Small-Molecule Disruptors of Mutant Huntingtin–Calmodulin Protein–Protein Interaction Attenuate Deleterious Effects of Mutant Huntingtin

, 2022
Huntington’s disease is a progressive and lethal neurodegenerative disease caused by an increased CAG repeat mutation in exon 1 of the huntingtin gene (mutant huntingtin).
Kenneth B. Guzmán Rodríguez (13046356), Coral Huntley (13046359), Khushboo Kapadia (13046353), Kevin J. Frankowski (1514284), Ashley E. Trojniak (7581587), Anuradha Roy (630348), Nancy A. Muma (13046362), Nicholas J. Klus (7359803), Peter McDonald (1580623), Jeffrey Aubé (1314141)   +9 more
core   +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

Altered microRNA expression in animal models of Huntington’s disease and potential therapeutic strategies

Neural Regeneration Research, 2021
A review of recent animal models of Huntington’s disease showed many microRNAs had altered expression levels in the striatum and cerebral cortex, and which were mostly downregulated.
Bridget Martinez, Philip V Peplow
doaj   +1 more source

HIP1 (huntingtin interactin protein 1) [PDF]

, 1998
Review on HIP1 (huntingtin interactin protein 1), with data on DNA, on the protein encoded, and where the gene is ...
Huret, JL, JL Huret
core   +1 more source

Alterations in mRNA 3′ UTR Isoform Abundance Accompany Gene Expression Changes in Human Huntington’s Disease Brains

Cell Reports, 2017
The huntingtin gene has two mRNA isoforms that differ in their 3′ UTR length. The relationship of these isoforms with Huntington’s disease is not established.
Lindsay Romo, Ami Ashar-Patel, Edith Pfister, Neil Aronin   +3 more
doaj   +1 more source