Results 41 to 50 of about 27,528 (227)

The HD Mutation Does Not Alter Neuronal Death in the Striatum of HdhQ92 Knock-in Mice after Mild Focal Ischemia

Neurobiology of Disease, 2002
Huntington's disease, with its dominant loss of striatal neurons, is triggered by an expanded glutamine tract in huntingtin. To investigate a proposed role for increased activation of the apoptotic cascade in mutant huntingtin's trigger mechanism, we ...
Shobu Namura, Lorenz Hirt, Vanessa C. Wheeler, Kim M. McGinnis, Paige Hilditch-Maguire, Michael A. Moskowitz, Marcy E. MacDonald, Francesca Persichetti   +7 more
doaj   +1 more source

Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates. [PDF]

PLoS ONE, 2017
Huntington disease is associated with elongation of a CAG repeat in the HTT gene that results in a mutant huntingtin protein. Several studies have implicated N-terminal huntingtin protein fragments in Huntington disease pathogenesis.
Menno H Schut, Stefano Patassini, Eric H Kim, Jocelyn Bullock, Henry J Waldvogel, Richard L M Faull, Barry A Pepers, Johan T den Dunnen, Gert-Jan B van Ommen, Willeke M C van Roon-Mom   +9 more
doaj   +1 more source

Novel DNA Aptamers that Bind to Mutant Huntingtin and Modify Its Activity

Molecular Therapy: Nucleic Acids, 2018
The CAG repeat expansion that elongates the polyglutamine tract in huntingtin is the root genetic cause of Huntington’s disease (HD), a debilitating neurodegenerative disorder.
Baehyun Shin, Roy Jung, Hyejin Oh, Gwen E. Owens, Hyeongseok Lee, Seung Kwak, Ramee Lee, Susan L. Cotman, Jong-Min Lee, Marcy E. MacDonald, Ji-Joon Song, Ravi Vijayvargia, Ihn Sik Seong   +12 more
doaj   +1 more source

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

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

Huntingtin in health and disease [PDF]

Journal of Clinical Investigation, 2003
After linkage of the Huntington disease (HD) gene was found in 1983, it took ten years of work by an international group to identify the mutation in the gene interesting transcript 15 (IT15) that causes the disease (1, 2). HD is an autosomal dominant inherited neurodegenerative disease that becomes manifest in midlife and causes progressive motor ...
openaire   +2 more sources

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

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