Results 1 to 10 of about 37,460 (168)

Vitamin C Transport Deficiency Alters Striatal Dopamine Gene Expression and Metabolism in YAC128 Huntington Disease Mice. [PDF]

Genes Brain Behav
ABSTRACT Neurodegeneration in Huntington disease (HD) contributes to dopaminergic system dysfunction via the loss of striatal medium spiny neurons expressing dopamine receptors. Given the key role for ascorbic acid (vitamin C) in dopamine synthesis and neurotransmission, we investigated whether mild cellular ascorbate deficiency accelerates ...
Tienda AA, Harrison FE, Wilcox JM.
europepmc   +2 more sources

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., Hurley, Emily Priscilla, Parsons, Matthew P.   +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 ...
Andrei N. Lupas, Stefan Kochanek, Wolfgang Baumeister, Bin Huang, Manuel Seefelder, Vikram Alva, Qiang Guo, Qiang Guo, Tatjana Engler, Rubén Fernández-Busnadiego, Rubén Fernández-Busnadiego   +10 more
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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, Judith Stemick, Zacharias Kohl   +2 more
openaire   +3 more sources

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.
Sandrine Humbert, Sandrine Humbert, Frédéric Saudou, Frédéric Saudou   +3 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
openaire   +3 more sources

A Huntingtin Peptide Inhibits PolyQ-Huntingtin Associated Defects [PDF]

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, Bonneaud, Nathalie, Talmat-Amar, Yasmina, Layalle, Sophie, Parmentier, Marie-Laure, Maschat, Florence   +5 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
openaire   +3 more sources

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, Shaun S. Sanders, Shaun S. Sanders, Nicholas S. Caron, Fanny Lemarié, Yen T. Nguyen, Michael R. Hayden, Mahmoud A. Pouladi, Mahmoud A. Pouladi, Seunghyun Ko, Xiaohong Xu, Xiaohong Xu, Dale D.O. Martin, Dale D.O. Martin   +13 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.
Mark Joinnides, Qi Zheng
openaire   +3 more sources