Results 21 to 30 of about 11,293 (160)
F-actin binding regions on the androgen receptor and huntingtin increase aggregation and alter aggregate characteristics. [PDF]
PLoS ONE, 2010 Protein aggregation is associated with neurodegeneration. Polyglutamine expansion diseases such as spinobulbar muscular atrophy and Huntington disease feature proteins that are destabilized by an expanded polyglutamine tract in their N-termini.
Suzanne Angeli +2 more
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Brain Sciences, 2014 Huntington disease and other diseases of polyglutamine expansion are each caused by a different protein bearing an excessively long polyglutamine sequence and are associated with neuronal death.
Guylaine Hoffner, Philippe Djian
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Are Polyglutamine Diseases Expanding? [PDF]
Neuron, 2011 It remains a matter of speculation as to whether the sense CUG-containing RNA and/or the antisense CAG-encoding polyglutamine peptide serves as the pathogenic moiety in Huntington's disease like-2 (HDL2). In this issue of Neuron, Wilburn et al. show that in a HDL2 mouse model, the polyglutamine peptide drives disease progression.
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Proteasome degrades soluble expanded polyglutamine completely and efficiently
Neurobiology of Disease, 2004 To date, nine progressive neurodegenerative diseases are caused by expansion of the CAG repeat coding for polyglutamine, including Huntington's disease and several forms of spinocerebellar ataxia.
Andrej Michalik +1 more
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Polyglutamine disease in peripheral tissues
Human Molecular Genetics, 2023 Abstract This year is a milestone anniversary of the discovery that Huntington’s disease is caused by the presence of expanded polyglutamine repeats in the huntingtin gene leading to the formation of huntingtin aggregates. 30 years have elapsed and there is still no cure and the only FDA-approved treatment to alleviate the debilitating ...
Barwell, Taylor, Seroude, Laurent
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Journal of Neuroinflammation, 2017 Background Polyglutamine diseases constitute a class of neurodegenerative disorders associated with expansion of the cytosine-adenine-guanine (CAG) triplet, in protein coding genes.
Reema Roshan +5 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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Na+/H+ exchangers induce autophagy in neurons and inhibit polyglutamine-induced aggregate formation.
PLoS ONE, 2013 In polyglutamine diseases, an abnormally elongated polyglutamine results in protein misfolding and accumulation of intracellular aggregates. Autophagy is a major cellular degradative pathway responsible for eliminating unnecessary proteins, including ...
Kazuya Togashi +5 more
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Population genetics of spinoсerebellar ataxias caused by polyglutamine expansions
Вавиловский журнал генетики и селекции, 2019 Hereditary disorders of the neuronal system are some of the most important problems of medicine in the XXI century. The most interesting representatives of this group are highly prevalent polyglutamine spinocerebellar ataxias (SCAs).
A. N. Shuvaev +8 more
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Degenerate codon mixing for PCR-based manipulation of highly repetitive sequences
BMC Research Notes, 2018 Objective Repeat expansion of polyglutamine tracks leads to a group of inherited human neurodegenerative disorders. Studying such repetitive sequences is required to gain insight into the pathophysiology of these diseases.
Dhanushika Ratnayake +2 more
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