Results 31 to 40 of about 25,505 (239)
, 2022 Huntington’s disease is a progressive and lethal neurodegenerative disease caused by an increased CAG repeat mutation in exon 1 of the huntingtin gene (mutant huntingtin).
Kenneth B. Guzmán Rodríguez (13046356) +9 more
core +1 more source
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
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
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
doaj +1 more source
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
doaj +1 more source
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
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 +9 more
doaj +1 more source
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
doaj +1 more source
Angewandte Chemie, EarlyView.In this review, we discuss how biomolecular condensates can inhibit amyloid aggregation in their interior, while still facilitating fibril formation at the interface between the dense and dilute phases, where molecular and mesoscale properties are likely optimal to promote protein aggregation.
Marcell Papp +3 more
wiley +2 more sources