Results 11 to 20 of about 44,176 (282)
Huntingtin Lowering Strategies [PDF]
International Journal of Molecular Sciences, 2020 Trials using antisense oligonucleotide technology to lower Huntingtin levels in Huntington’s disease (HD) are currently ongoing. This progress, taking place only 27 years after the identification of the Huntingtin gene (HTT) in 1993 reflects the enormous development in genetic engineering in the last decades.
Franz Marxreiter +2 more
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Huntingtin and the Synapse [PDF]
Frontiers in Cellular Neuroscience, 2021 Huntington disease (HD) is a monogenic disease that results in a combination of motor, psychiatric and cognitive symptoms. HD is caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene, which results in the production of a pathogenic mutant HTT protein (mHTT).
Barron, Jessica C. +2 more
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Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity [PDF]
Neurobiology of Disease, 2021 AbstractHuntington disease (HD) is a neurodegenerative disorder caused by a CAG expansion in theHTTgene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein. HTT is subject to multiple post-translational modifications (PTMs) that regulate its cellular function.
Fanny L. Lemarié +9 more
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Thermodynamics of Huntingtin Aggregation [PDF]
Biophysical Journal, 2020 Amyloid aggregates are found in many neurodegenerative diseases, including Huntington's, Alzheimer's, and prion diseases. The precise role of the aggregates in disease progression has been difficult to elucidate because of the diversity of aggregated states they can adopt.
Tam T M, Phan, Jeremy D, Schmit
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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
Neurobiology of Disease, 2001 The cause of Huntington's disease (HD) is a pathological expansion of the polyglutamine domain within the N-terminal region of huntingtin. Neuronal intranuclear inclusions and cytoplasmic aggregates composed of the mutant huntingtin within certain ...
Wanjoo Chun +6 more
doaj +1 more source
A Huntingtin Peptide Inhibits PolyQ-Huntingtin Associated Defects
PLoS ONE, 2013 Huntington's disease (HD) is caused by the abnormal expansion of the polyglutamine tract in the human Huntingtin protein (polyQ-hHtt). Although this mutation behaves dominantly, huntingtin loss of function also contributes to HD pathogenesis. Indeed, wild-type Huntingtin plays a protective role with respect to polyQ-hHtt induced defects.The question ...
Arribat, Yoan +5 more
openaire +5 more sources
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
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