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Current Opinion in Neurobiology, 2022 Polyglutamine diseases are a collection of nine CAG trinucleotide expansion disorders, presenting with a spectrum of neurological and clinical phenotypes. Recent human, mouse and cell studies of Huntington's disease have highlighted the role of DNA repair genes in somatic expansion of the CAG repeat region, modifying disease pathogenesis.
Sarah J Tabrizi
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Autophagy and Polyglutamine Disease
2020Polyglutamine (polyQ) disease is a type of fatal neurodegenerative disease caused by an expansion of CAG repeats in a specific gene, resulting in a protein with an abnormal polyQ fragment. The age of onset and the degree of pathological deterioration are related to the length of the polyQ fragment.
Haigang, Ren +2 more
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Polyglutamine Diseases and Molecular Chaperones
IUBMB Life, 2003AbstractThe polyglutamine diseases, a group of diseases currently thought to consist of nine inherited neurodegenerative diseases, are caused by the expansion of unstable CAG trinucleotide repeats that code for polyglutamine tracts in the responsible genes.
Yoko, Kimura, Akira, Kakizuka
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Therapeutic opportunities in polyglutamine disease
Nature Medicine, 2001Polyglutamine diseases comprise a class of familial neurodegenerative disorders caused by expression of proteins containing expanded polyglutamine tracts. Great progress has been made in elucidating the molecular mechanisms contributing to polyglutamine pathology, and in identifying potential drug targets.
R E, Hughes, J M, Olson
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The role of chaperones in polyglutamine disease
Trends in Molecular Medicine, 2002The "triplet repeat" neurodegenerative diseases are linked by a common mode of pathogenicity, wherein a polyglutamine expansion within the relevant disease-causing protein induces toxicity. Although details underlying pathogenesis are largely unknown, protein chaperones appear to be effective suppressors of toxicity in various experimental models ...
Puneet, Opal, Huda Y, Zoghbi
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Protective effect of chaperones on polyglutamine diseases
Brain Research Bulletin, 2001Polyglutamine diseases are inherited neurodegenerative diseases caused by the expansion of polyglutamine tract in the disease causing gene products. Studies of polyglutamine disease patients and transgenic mice have revealed that nuclear inclusions formed by the disease protein are a common pathological feature of these diseases.
Sobue
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Cell death in polyglutamine diseases
Cell and Tissue Research, 2000An increasing number of inherited neurodegenerative diseases are known to be caused by trinucleotide repeat expansions in the respective genes. At least nine disorders result from a CAG trinucleotide repeat expansion which is translated into a polyglutamine stretch in the respective proteins: Huntington's disease (HD), dentatorubral pallidolysian ...
B O, Evert, U, Wüllner, T, Klockgether
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Gene Therapies for Polyglutamine Diseases
2018Polyglutamine diseases are hereditary degenerative disorders of the nervous system that have remained, to this date, untreatable. Promisingly, investigation into their molecular etiology and the development of increasingly perfected tools have contributed to the design of novel strategies with therapeutic potential.
Carlos A, Matos +8 more
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Enhanced SUMOylation in polyglutamine diseases
Biochemical and Biophysical Research Communications, 2002Small ubiquitin-like modifiers (SUMOs) are proteins homologous to ubiquitin that possibly regulate intranuclear protein localization, nuclear transport, and ubiquitination. We examined patients of DRPLA, SCA1, MJD, and Huntington's disease and found that neurons in affected regions of the brain react strongly to SUMO-1, a family member of SUMOs ...
Hiroko, Ueda +8 more
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Polyglutamine expansion neurodegenerative disease
Brain Research Bulletin, 2001Kennedy's disease was the first of eight neurodegenerative disorders found to be caused by expanded polyglutamine repeats. Each of these disorders is likely caused by a toxic gain of function in the disease gene product, often associated with inclusions of mutant protein in susceptible neurons.
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