Results 11 to 20 of about 11,293 (160)
Pathogenesis of SCA3 and implications for other polyglutamine diseases [PDF]
Neurobiology of Disease, 2020 Tandem repeat diseases include the neurodegenerative disorders known as polyglutamine (polyQ) diseases, caused by CAG repeat expansions in the coding regions of the respective disease genes. The nine known polyQ disease include Huntington’s disease (HD),
Hayley S. McLoughlin +2 more
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The Missing Link in Polyglutamine Diseases. [PDF]
Mov Disord Clin Pract, 2018 Polyglutamine diseases are a group of nine hereditary neurodegenerative disorders and include Huntington disease (HD), the most prevalent spinocerebellar ataxias (SCAs type 1, 2, 3, 6, 7 and 17), dentatorubral-pallidoluysian atrophy and spinal and bulbar muscular atrophy (also known as Kennedy disease).
Aziz NA, Balint B.
europepmc +4 more sources
Polyglutamine (PolyQ) Diseases: Genetics to Treatments [PDF]
Cell Transplantation, 2014 The polyglutamine (polyQ) diseases are a group of neurodegenerative disorders caused by expanded cytosine– adenine–guanine (CAG) repeats encoding a long polyQ tract in the respective proteins. To date, a total of nine polyQ disorders have been described:
Hueng-Chuen Fan +7 more
doaj +3 more sources
Polyglutamine Repeats in Neurodegenerative Diseases [PDF]
Annual Review of Pathology: Mechanisms of Disease, 2019 Among the age-dependent protein aggregation disorders, nine neurodegenerative diseases are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We review the clinical, pathological, and biological features of these inherited disorders.
Andrew P Lieberman +2 more
exaly +3 more sources
Autophagy and polyglutamine diseases.
Prog Neurobiol, 2012 In polyglutamine diseases, an abnormally elongated polyglutamine tract results in protein misfolding and accumulation of intracellular aggregates. The length of the polyglutamine expansion correlates with the tendency of the mutant protein to aggregate, as well as with neuronal toxicity and earlier disease onset.
Jimenez-Sanchez M +3 more
europepmc +6 more sources
Molecular origin of polyglutamine aggregation in neurodegenerative diseases. [PDF]
PLoS Computational Biology, 2005 Expansion of polyglutamine (polyQ) tracts in proteins results in protein aggregation and is associated with cell death in at least nine neurodegenerative diseases.
Sagar D Khare +3 more
doaj +5 more sources
Stem cell models of polyglutamine diseases and their use in cell-based therapies [PDF]
Frontiers in Neuroscience, 2015 Polyglutamine diseases are fatal neurological disorders that affect the central nervous system. They are caused by mutations in disease genes that contain CAG trinucleotide expansions in their coding regions.
Evangelia eSiska +3 more
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Editorial: The role of posttranslational modifications in polyglutamine diseases [PDF]
Frontiers in Molecular Neuroscience, 2023 Jonasz Jeremiasz Weber +5 more
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Biomolecules, 2022 Nine heritable diseases are known that are caused by unphysiologically elongated polyglutamine tracts in human proteins leading to misfolding, aggregation and neurodegeneration.
Pauline Elisabeth Kolkwitz +2 more
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Hosting Neurotoxicity in Polyglutamine Disease [PDF]
Cell, 2006 Polyglutamine diseases are caused by an expanded glutamine domain thought to confer a toxic activity onto the respective disease proteins. In this issue, propose that toxicity of the polyglutamine protein Ataxin-1 may not be due to abberant protein interactions mediated by the polyglutamine expansion.
Liu, Nan, Bonini, Nancy M.
openaire +2 more sources