Results 1 to 10 of about 25,505 (239)

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

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

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

Tissue Transglutaminase Selectively Modifies Proteins Associated with Truncated Mutant Huntingtin in Intact Cells

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 ...
Mathieu Lesort, Janusz Tucholski, Marcy E Macdonald   +2 more
exaly   +3 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

Lipid composition controls the huntingtin exon 1 membrane-association and differentially modulates its flanking regions' dynamics. [PDF]

Protein Sci
Abstract The pathological expansion of the polyglutamine (polyQ) repeat within the first exon of huntingtin (Httex1) protein is a defining hallmark of Huntington's disease (HD). Multiple evidence supports that the membrane recruitment of Httex1 is critical for its self‐assembly and related toxicity in HD.
Sousa T, Damas G, Coutinho A, Bernardes N, Azevedo A, Prieto M, Melo AM.   +6 more
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
openaire   +4 more sources

Full-length huntingtin is palmitoylated at multiple sites and post-translationally myristoylated following caspase-cleavage

Frontiers in Physiology, 2023
Introduction: Huntington disease is an autosomal dominant neurodegenerative disorder which is caused by a CAG repeat expansion in the HTT gene that codes for an elongated polyglutamine tract in the huntingtin (HTT) protein.
Fanny L. Lemarié, Shaun S. Sanders, Yen Nguyen, Dale D. O. Martin, Michael R. Hayden   +4 more
doaj   +1 more source

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