Results 11 to 20 of about 27,528 (227)

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
core   +5 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
openaire   +6 more sources

Huntingtin Regulates Mammary Stem Cell Division and Differentiation [PDF]

Stem Cell Reports, 2014
Little is known about the mechanisms of mitotic spindle orientation during mammary gland morphogenesis. Here, we report the presence of huntingtin, the protein mutated in Huntington’s disease, in mouse mammary basal and luminal cells throughout ...
Salah Elias, Morgane S. Thion, Hua Yu, Cristovao Marques Sousa, Charlène Lasgi, Xavier Morin, Sandrine Humbert   +6 more
doaj   +2 more sources

Polyglutamine Repeat Length-Dependent Proteolysis of Huntingtin [PDF]

Neurobiology of Disease, 2002
Amino-terminal fragments of huntingtin, which contain the expanded polyglutamine repeat, have been proposed to contribute to the pathology of Huntington's disease (HD).
Banghua Sun, Wei Fan, Aldona Balciunas, Jillian K. Cooper, Gal Bitan, Shirley Steavenson, Paul E. Denis, Yunjen Young, Beverly Adler, Larry Daugherty, Raffi Manoukian, Gary Elliott, Wenyan Shen, Jane Talvenheimo, David B. Teplow, Mitsuru Haniu, Raj Haldankar, Jette Wypych, Christopher A. Ross, Martin Citron, William G. Richards   +20 more
doaj   +2 more sources

The Huntingtin Transport Complex

Biochemistry
A dynamic network of scaffolding molecules, adaptor proteins, and motor proteins work together to orchestrate the movement of proteins, mRNA, and vesicular cargoes. Defects in intracellular transport can often lead to neurodegeneration. Huntingtin (HTT) is a ubiquitously expressed scaffolding protein with a multitude of cellular roles, including ...
Emily N. P. Prowse, Brooke A. Turkalj, Lale Gursu, Adam G. Hendricks   +3 more
openaire   +3 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
openaire   +4 more sources

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   +2 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.
Saudou, Frédéric, Humbert, Sandrine
openaire   +2 more sources

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, Vikram Alva, Bin Huang, Tatjana Engler, Wolfgang Baumeister, Qiang Guo, Rubén Fernández-Busnadiego, Andrei N. Lupas, Stefan Kochanek   +8 more
openaire   +6 more sources

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
openaire   +2 more sources