Huntingtin associated protein 1 and its functions [PDF]
Cell Adhesion & Migration, 2009 Huntington disease (HD) is caused by a polyglutamine expansion in the protein huntingtin (Htt). Several studies suggest that Htt and huntingtin associated protein 1 (HAP1) participate in intracellular trafficking and that polyglutamine expansion affects vesicular transport.
Zhou, Xin-Fu, Wu, Linyan
openaire +4 more sources
Huntingtin Regulates Mammary Stem Cell Division and Differentiation
Stem Cell Reports, 2014 Little is known about the mechanisms of mitotic spindle orientation during mammary gland morphogenesis. Here, we report the presence of huntingtin, the protein mutated in Huntington’s disease, in mouse mammary basal and luminal cells throughout ...
Salah Elias +6 more
doaj +1 more source
HDAC4 reduction: a novel therapeutic strategy to target cytoplasmic huntingtin and ameliorate neurodegeneration. [PDF]
PLoS Biology, 2013 Histone deacetylase (HDAC) 4 is a transcriptional repressor that contains a glutamine-rich domain. We hypothesised that it may be involved in the molecular pathogenesis of Huntington's disease (HD), a protein-folding neurodegenerative disorder caused by ...
Michal Mielcarek +20 more
doaj +1 more source
Effects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT [PDF]
, 2020 Huntington’s disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates.
Agrawal, Namita +10 more
core
Isolation of a 40-kDa Huntingtin-associated Protein [PDF]
Journal of Biological Chemistry, 2001 Huntington's disease is caused by an expanded CAG trinucleotide repeat coding for a polyglutamine stretch within the huntingtin protein. Currently, the function of normal huntingtin and the mechanism by which expanded huntingtin causes selective neurotoxicity remain unknown. Clues may come from the identification of huntingtin-associated proteins (HAPs)
M F, Peters, C A, Ross
openaire +2 more sources
Cardiac dysfunction in the R6/2 mouse model of Huntington’s disease
Neurobiology of Disease, 2007 Recent evidence suggests that mutant huntingtin protein-induced energetic perturbations contribute to neuronal dysfunction in Huntington’s disease (HD). Given the ubiquitous expression of huntingtin, other cell types with high energetic burden may be at ...
Michael J. Mihm +5 more
doaj +1 more source
Huntington disease: Advances in the understanding of its mechanisms
Clinical Parkinsonism & Related Disorders, 2020 Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4.
Emilia M. Gatto +5 more
doaj +1 more source
DISC1 and Huntington's disease--overlapping pathways of vulnerability to neurological disorder? [PDF]
PLoS ONE, 2011 We re-annotated the interacting partners of the neuronal scaffold protein DISC1 using a knowledge-based approach that incorporated recent protein interaction data and published literature to. This revealed two highly connected networks.
Ruth Boxall +2 more
doaj +1 more source
Letter to the editor: autoimmune pathogenic mechanisms in Huntington’s disease [PDF]
, 2018 Letter to the Editor: Autoimmune pathogenic mechanisms in Huntington's ...
DE VINCENTIIS, Marco +5 more
core +1 more source
Depletion of CBP is directly linked with cellular toxicity caused by mutant huntingtin
Neurobiology of Disease, 2006 Huntington's disease is a neurodegenerative disease caused by an expanded polyglutamine stretch within the huntingtin protein. Transfection of mutant huntingtin causes cell toxicity and depletion of CREB binding protein (CBP) or its recruitment into ...
Haibing Jiang +7 more
doaj +1 more source