Results 11 to 20 of about 21,037 (206)
Current Opinion in Neurobiology, 2021 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.
Emma L Bunting, J. Hamilton, S. Tabrizi
semanticscholar +4 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.
A. Lieberman, V. Shakkottai, R. Albin
semanticscholar +4 more sources
Polyglutamine tracts regulate autophagy [PDF]
Autophagy, 2017 Expansions of polyglutamine (polyQ) tracts in different proteins cause 9 neurodegenerative conditions, such as Huntington disease and various ataxias. However, many normal mammalian proteins contain shorter polyQ tracts. As these are frequently conserved in multiple species, it is likely that some of these polyQ tracts have important but unknown ...
A. Ashkenazi +10 more
semanticscholar +4 more sources
Polyglutamine pathogenesis [PDF]
Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 1999 An increasing number of neurodegenerative disorders have been found to be caused by expanding CAG triplet repeats that code for polyglutamine. Huntington's disease (HD) is the most common of these disorders and dentato-rubral-pallidoluysian atrophy (DRPLA) is very similar to HD, but is caused by mutation in a different gene, making them good models to ...
Christopher A. Ross +8 more
openalex +4 more sources
Studying polyglutamine diseases in Drosophila [PDF]
Experimental Neurology, 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.
Zhen Xu +3 more
semanticscholar +4 more sources
Huntingtin-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In Vivo [PDF]
Cell, 1997 Eberhard Scherzinger +9 more
openalex +2 more sources
Stress granules, RNA-binding proteins and polyglutamine diseases: too much aggregation?
Cell Death and Disease, 2021 Stress granules (SGs) are membraneless cell compartments formed in response to different stress stimuli, wherein translation factors, mRNAs, RNA-binding proteins (RBPs) and other proteins coalesce together.
Adriana Marcelo +4 more
semanticscholar +1 more source
ASK1 is essential for endoplasmic reticulum stress-induced neuronal cell death triggered by expanded polyglutamine repeats [PDF]
Genes & Development, 2002 Expansion of CAG trinucleotide repeats that encode polyglutamine is the underlying cause of at least nine inherited human neurodegenerative disorders, including Huntington's disease and spinocerebellar ataxias. PolyQ fragments accumulate as aggregates in
Hideki Nishitoh +8 more
openalex +2 more sources
Polyglutamine Disease: Acetyltransferases Awry [PDF]
Current Biology, 2002 Recent evidence indicates that inhibition of histone acetyltransferases may be a primary cause of cellular pathogenesis in polyglutamine diseases such as Huntington disease; the results raise the possibility that pharmacologic manipulation of protein acetylation levels could be of therapeutic benefit.
Robert E. Hughes
openalex +3 more sources
Silencing Polyglutamine Degeneration with RNAi [PDF]
Neuron, 2005 Nine dominantly inherited neurodegenerative diseases are caused by expansion of a CAG repeat encoding glutamine. An important development in the study of such "polyglutamine" diseases was the realization that merely shutting off expression of a disease-encoding transgene could arrest progression in animal models with significant disease pathology. Such
Albert R. La Spada +2 more
openaire +3 more sources