RNA therapy for polyglutamine neurodegenerative diseases.
Expert Reviews in Molecular Medicine, 2012 Polyglutamine neurodegenerative diseases result from the expansion of a trinucleotide CAG repeat, encoding a polyglutamine tract in the disease-causing protein.
Wood, MJ, Watson, LM, Wood, Matthew
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Peripheral markers of autophagy in polyglutamine diseases
Neurological Sciences, 2017 Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy.
SACCA', FRANCESCO +17 more
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Identification of Novel Therapeutic Targets for Polyglutamine Diseases That Target Mitochondrial Fragmentation. [PDF]
Int J Mol Sci, 2021 Huntington’s disease (HD) is one of at least nine polyglutamine diseases caused by a trinucleotide CAG repeat expansion, all of which lead to age-onset neurodegeneration.
Traa A +5 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.
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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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Studying polyglutamine diseases in Drosophila. [PDF]
Exp Neurol, 2015 Polyglutamine (polyQ) diseases are a family of dominantly transmitted neurodegenerative disorders caused by an abnormal expansion of CAG trinucleotide repeats in the protein-coding regions of the respective disease-causing genes. Despite their simple genetic basis, the etiology of these diseases is far from clear.
Xu Z, Tito AJ, Rui YN, Zhang S.
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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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Live axonal transport disruption by mutant huntingtin fragments in Drosophila motor neuron axons [PDF]
, 2009 Huntington's Disease is a neurodegenerative condition caused by a polyglutamine expansion in thehuntingtin (Htt) protein, which aggregates and also causes neuronal dysfunction. Pathogenic N-terminal httfragments perturb axonal transport in vitro.
Burbidge-King, T. +13 more
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DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases. [PDF]
Ann Neurol, 2016 The SPATAX NetworkInternational audienceObjectiveThe polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative diseases.
Bettencourt C +24 more
europepmc +3 more sources
Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content [PDF]
, 2011 Dynamic expansions of toxic polyglutamine (polyQ)-encoding CAG repeats in ubiquitously expressed, but otherwise unrelated, genes cause a number of late-onset progressive neurodegenerative disorders, including Huntington disease and the spinocerebellar ...
Darren G. Monckton +7 more
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