Results 21 to 30 of about 40,748 (225)
Huntingtin is critical both pre- and postsynaptically for long-term learning-related synaptic plasticity in Aplysia. [PDF]
PLoS ONE, 2014 Patients with Huntington's disease exhibit memory and cognitive deficits many years before manifesting motor disturbances. Similarly, several studies have shown that deficits in long-term synaptic plasticity, a cellular basis of memory formation and ...
Yun-Beom Choi +5 more
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Frontiers in Molecular Biosciences, 2023 Polyglutamine expansion at the N-terminus of the huntingtin protein exon 1 (Htt-ex1) is closely associated with a number of neurodegenerative diseases, which result from the aggregation of the increased polyQ repeat.
Mohammed Khaled +3 more
doaj +1 more source
Hunting for the function of Huntingtin [PDF]
Disease Models & Mechanisms, 2009 Huntington’s disease (HD) is a devastating neurodegenerative disorder, afflicting three to ten individuals per 100,000 in Western Europe and North America ([Gil and Rego, 2008][1]). In 1993, the gene responsible for HD ( HTT ) was cloned, representing a major breakthrough in the field.
Qi, Zheng, Mark, Joinnides
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Acta Medica Lituanica, 2021 Background: In Huntington’s disease psychiatric symptoms may manifest prior to motor dysfunction. Such symptoms negatively impact people’s quality of life and can worsen the course of the primary disease.
Adelė Butėnaitė +7 more
doaj +1 more source
Clearance of mutant huntingtin [PDF]
Autophagy, 2010 Mutant huntingtin (htt) carries an expanded polyglutamine (polyQ) repeat (> 36 glutamines) in its N-terminal region, which leads htt to become misfolded and kill neuronal cells in Huntington disease (HD). The cytotoxicity of N-terminal mutant htt fragments is evident by severe neurological phenotypes of transgenic mice that express these htt fragments.
Xiao-Jiang, Li, He, Li, Shihua, Li
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Frontiers in Molecular Biosciences, 2021 Post-translational modifications (PTMs) within the first 17 amino acids (Nt17) of the Huntingtin protein (Htt) have been shown to inhibit the aggregation and attenuate the toxicity of mutant Htt proteins in vitro and in various models of Huntington’s ...
Anass Chiki +10 more
doaj +1 more source
The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington’s disease [PDF]
, 2020 Objective Compromised brain cholesterol turnover and altered regulation of brain cholesterol metabolism have been allied with some neurodegenerative diseases, including Huntington’s disease (HD).
Alves, Sandro +12 more
core +1 more source
Mutant Huntingtin Promotes the Fibrillogenesis of Wild-type Huntingtin [PDF]
Journal of Biological Chemistry, 2003 Aggregation of huntingtin (htt) in neuronal inclusions is associated with the development of Huntington's disease (HD). Previously, we have shown that mutant htt fragments with polyglutamine (polyQ) tracts in the pathological range (>37 glutamines) form SDS-resistant aggregates with a fibrillar morphology, whereas wild-type htt fragments with normal ...
Anne Busch +5 more
openaire +4 more sources
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.
Brown, Euan R. +2 more
core +1 more source
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 +2 more
doaj +1 more source