Results 41 to 50 of about 40,748 (225)
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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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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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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The localization and interactions of huntingtin [PDF]
Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 1999 Huntingtin was localized by using a series of antibodies that detected different areas of the protein from the immediate N–terminus to the C–terminal region of the protein. The more C–terminal antibodies gave a cytoplasmic localization in neurons of the brain in controls and cases of Huntington'sdisease (HD).
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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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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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Letter to the editor: autoimmune pathogenic mechanisms in Huntington’s disease [PDF]
, 2018 Letter to the Editor: Autoimmune pathogenic mechanisms in Huntington's ...
DE VINCENTIIS, Marco +5 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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The Unfolded Protein Response and its potential role in Huntington's disease [PDF]
, 2012 Huntington's disease (HD) is a progressive, neurodegenerative disease with fatal outcome. Although the disease-causing gene (huntingtin) has been known for some time, the exact cause of neuronal cell death is still unknown.
Kamesh Ayasolla +2 more
core +2 more sources