Results 11 to 20 of about 19,992 (185)
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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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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The Biology of Huntingtin [PDF]
Neuron, 2016 Huntingtin (HTT) is now a famous protein because an abnormal expansion of a glutamine stretch (polyQ) in its N-terminal sequence leads to the devastating neurodegenerative disorder Huntington's disease (HD). The gene encoding huntingtin, HTT, and its dominantly inherited mutation were identified more than 20 years ago.
Saudou, Frédéric, Humbert, Sandrine
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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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The evolution of the huntingtin-associated protein 40 (HAP40) in conjunction with huntingtin [PDF]
BMC Evolutionary Biology, 2020 AbstractBackgroundThe huntingtin-associated protein 40 (HAP40) abundantly interacts with huntingtin (HTT), the protein that is altered in Huntington’s disease (HD). Therefore, we analysed the evolution of HAP40 and its interaction with HTT.ResultsWe found that in amniotes HAP40 is encoded by a single-exon gene, whereas in all other organisms it is ...
Manuel Seefelder +8 more
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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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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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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
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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
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Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity [PDF]
Neurobiology of Disease, 2021 Abstract Huntington disease (HD) is a neurodegenerative disorder caused by a CAG expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié +9 more
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