Results 41 to 50 of about 25,505 (239)

The Huntington disease protein accelerates breast tumour development and metastasis through ErbB2/HER2 signalling

EMBO Molecular Medicine, 2013
In Huntington disease (HD), polyglutamine expansion in the huntingtin protein causes specific neuronal death. The consequences of the presence of mutant huntingtin in other tissues are less well understood.
Cristovão Moreira Sousa, John Russel McGuire, Morgane Sonia Thion, David Gentien, Pierre de la Grange, Sophie Tezenas du Montcel, Anne Vincent‐Salomon, Alexandra Durr, Sandrine Humbert   +8 more
doaj   +1 more source

Gene Silencing Therapies for Huntington’s Disease [PDF]

Neurology Letters
Huntington’s disease (HD) is a rare, autosomal‑dominant neurodegenerative disorder precipitated by a pathological expansion of CAG trinucleotide repeats in exon 1 of the huntingtin (HTT) gene.
Chunlan Hao, Hanfeng Ji
doaj   +1 more source

Studying Huntington’s Disease in Yeast: From Mechanisms to Pharmacological Approaches

Frontiers in Molecular Neuroscience, 2018
Huntington’s disease (HD) is a neurodegenerative disorder that leads to progressive neuronal loss, provoking impaired motor control, cognitive decline, and dementia.
Sebastian Hofer, Katharina Kainz, Andreas Zimmermann, Andreas Zimmermann, Maria A. Bauer, Tobias Pendl, Michael Poglitsch, Frank Madeo, Frank Madeo, Didac Carmona-Gutierrez   +9 more
doaj   +1 more source

Altering cortical input unmasks synaptic phenotypes in the YAC128 cortico-striatal co-culture model of Huntington disease

BMC Biology, 2018
Background Huntington disease (HD) is a fatal neurodegenerative disorder caused by a CAG expansion in the huntingtin (HTT) gene, leading to selective and progressive neuronal death predominantly in the striatum. Mutant HTT expression causes dysfunctional
Mandi E. Schmidt, Caodu Buren, James P. Mackay, Daphne Cheung, Louisa Dal Cengio, Lynn A. Raymond, Michael R. Hayden   +6 more
doaj   +1 more source

Mutant huntingtin impairs the post-Golgi trafficking of brain-derived neurotrophic factor but not its Val66Met polymorphism.

, 2013
Brain-derived neurotrophic factor (BDNF) polymorphism is associated with the pathophysiology of several neurodegenerative disorders, including Huntington"s disease.
Toro Ruiz, Daniel del, Egea Guri, Gustavo, Ginés Padrós, Silvia, Kojima, Masami, Canals i Coll, Josep M., Alberch i Vié, Jordi, 1959-   +5 more
core   +1 more source

Safe and Efficient Silencing with a Pol II, but Not a Pol lII, Promoter Expressing an Artificial miRNA Targeting Human Huntingtin

Molecular Therapy: Nucleic Acids, 2017
Huntington’s disease is a devastating, incurable neurodegenerative disease affecting up to 12 per 100,000 patients worldwide. The disease is caused by a mutation in the Huntingtin (Htt) gene.
Edith L. Pfister, Kathryn O. Chase, Huaming Sun, Lori A. Kennington, Faith Conroy, Emily Johnson, Rachael Miller, Florie Borel, Neil Aronin, Christian Mueller   +9 more
doaj   +1 more source

PolyQ-Expansion Causes Mitochondria Fragmentation Independent of Huntingtin and Is Distinct from Traumatic Brain Injury (TBI)/Mechanical Stress-Mediated Fragmentation Which Results from Cell Death

Cells, 2023
Mitochondrial dysfunction has been reported in many Huntington’s disease (HD) models; however, it is unclear how these defects occur. Here, we test the hypothesis that excess pathogenic huntingtin (HTT) impairs mitochondrial homeostasis, using Drosophila
Kelsey Swinter, Dania Salah, Rasika Rathnayake, Shermali Gunawardena   +3 more
doaj   +1 more source

Therapeutic Antisense Targeting of Huntingtin [PDF]

DNA and Cell Biology, 2020
Antisense oligonucleotides (ASOs) are a relatively new therapeutic entity that utilizes short chemically modified strands of DNA in targeted interactions with RNA to modulate the type or amount of resultant protein. This brief review summarizes the preclinical, translational, and early clinical development of an ASO designed to reduce the production of
Smith, AV, Tabrizi, SJ
openaire   +3 more sources

Huntingtin-mediated axonal transport requires arginine methylation by PRMT6

Cell Reports, 2021
Summary: The huntingtin (HTT) protein transports various organelles, including vesicles containing neurotrophic factors, from embryonic development throughout life. To better understand how HTT mediates axonal transport and why this function is disrupted
Alice Migazzi, Chiara Scaramuzzino, Eric N. Anderson, Debasmita Tripathy, Ivó H. Hernández, Rogan A. Grant, Michela Roccuzzo, Laura Tosatto, Amandine Virlogeux, Chiara Zuccato, Andrea Caricasole, Tamara Ratovitski, Christopher A. Ross, Udai B. Pandey, José J. Lucas, Frédéric Saudou, Maria Pennuto, Manuela Basso   +17 more
doaj   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source