PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases
Neurobiology of Disease, 2003 In polyglutamine diseases, accumulation in the nucleus of mutant proteins induces the formation of neuronal intranuclear inclusions (NIIs). The nucleus is compartmentalized into structural and functional domains, which are involved in NII formation ...
Junko Takahashi +14 more
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Transcriptional Dysregulation and Post-translational Modifications in Polyglutamine Diseases: From Pathogenesis to Potential Therapeutic Strategies. [PDF]
Front Mol Neurosci, 2018 Xiang C, Zhang S, Dong X, Ma S, Cong S.
europepmc +3 more sources
PolyQ Database-an integrated database on polyglutamine diseases. [PDF]
Database (Oxford), 2023 Abstract Polyglutamine (polyQ) diseases are neurodegenerative disorders caused by abnormally expanded Cytosine, Adenine, Guanine (CAG) triplet repeat sequences in the coding region of otherwise unrelated genes. Until now, nine different polyQ diseases have been described: Huntington’s disease, dentatorubral-pallidoluysian atrophy, spinal
Estevam B, Matos CA, Nóbrega C.
europepmc +4 more sources
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
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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Current understanding on the pathogenesis of polyglutamine diseases [PDF]
Neuroscience Bulletin, 2010 Polyglutamine (polyQ) diseases are a family of neurodegenerative disorders including Huntington's disease, spinobulbar muscular atrophy, dentatorubral-pallidoluysian atrophy and several spinocerebellar ataxias. polyQ diseases are caused by abnormal expansion of CAG repeats in certain genes.
Xiaohui He, Fang Lin, Zheng‐Hong Qin
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Protein Fate in Neurodegenerative Proteinopathies: Polyglutamine Diseases Join the (Mis)Fold [PDF]
American Journal of Human Genetics, 1999 Henry L Paulson
exaly +2 more sources
Polyglutamine Repeats in Neurodegenerative Diseases [PDF]
Annual Review of Pathology: Mechanisms of Disease, 2018 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
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Filter Retardation Assay for Detecting and Quantifying Polyglutamine Aggregates Using Caenorhabditis elegans Lysates [PDF]
, 2018 Protein aggregation is a hallmark of several neurodegenerative diseases and is associated with impaired protein homeostasis. This imbalance is caused by the loss of the protein's native conformation, which ultimately results in its aggregation or ...
Mata Cabana, Alejandro +3 more
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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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