Results 11 to 20 of about 28,868 (258)
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
F. Marxreiter, Judith Stemick, Z. Kohl
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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.
F. Saudou, S. Humbert
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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 ...
Andrei N. Lupas +10 more
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Wild-Type Huntingtin Reduces the Cellular Toxicity of Mutant Huntingtin In Vivo [PDF]
The American Journal of Human Genetics, 2001 We have developed yeast artificial chromosome (YAC) transgenic mice expressing normal (YAC18) and mutant (YAC46 or YAC72) human huntingtin (htt), in a developmental- and tissue-specific manner, that is identical to endogenous htt. YAC72 mice develop selective degeneration of medium spiny projection neurons in the lateral striatum, similar to what is ...
Blair R. Leavitt +6 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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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.
Mandi E. Schmidt +13 more
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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.
Shihua Li, He Li, Xiao-Jiang Li
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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.
Mark Joinnides, Qi Zheng
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Mutant HTT (huntingtin) impairs mitophagy in a cellular model of Huntington disease
Autophagy, 2020 The precise degradation of dysfunctional mitochondria by mitophagy is essential for maintaining neuronal homeostasis. HTT (huntingtin) can interact with numerous other proteins and thereby perform multiple biological functions within the cell.
Sandra Franco-Iborra +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
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