Results 21 to 30 of about 19,992 (185)
Huntingtin: Here, There, Everywhere!
Journal of Huntington's Disease, 2013 Huntingtin is the protein mutated in Huntington disease, a dominant inherited neurodegenerative disorder. Huntingtin is ubiquitously expressed throughout the body, however its role outside the central nervous system has been overlooked. This review focuses on the peripheral distribution of huntingtin.
Cristovao, Marques Sousa +1 more
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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
PLoS ONE, 2019 One response of cells to growth factor stimulus involves changes in morphology driven by the actin cytoskeleton and actin associated proteins which regulate functions such as cell adhesion, motility and in neurons, synaptic plasticity.
Adelaide Tousley +9 more
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Cysteine String Protein Controls Two Routes of Export for Misfolded Huntingtin
Frontiers in Neuroscience, 2022 Extracellular vesicles (EVs) are secreted vesicles of diverse size and cargo that are implicated in the cell-to-cell transmission of disease-causing-proteins in several neurodegenerative diseases.
Desmond Pink +4 more
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PLoS ONE, 2015 Huntington's disease is a neurodegenerative disorder characterised primarily by motor abnormalities, and is caused by an expanded polyglutamine repeat in the huntingtin protein.
Kathryn R Bowles +3 more
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eLife, 2016 The polyglutamine expansion in huntingtin protein causes Huntington’s disease. Here, we investigated structural and biochemical properties of huntingtin and the effect of the polyglutamine expansion using various biophysical experiments including ...
Ravi Vijayvargia +13 more
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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 +7 more
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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 +9 more
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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 +12 more
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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 +8 more
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