Trinucleotide repeat disorders.

By H. Orr, H. Zoghbi. Annual Review of Neuroscience, 2007

1,445 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/ce76da4268be23fa39982fbf6985d2958e987e3b

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Citations in the corpus

Stress granules as crucibles of ALS pathogenesis (2013, background): “Ataxin 2, SGs, and disease: integrating environmental stress and disease? Ataxin 2 is another SG-associated RNA-binding protein that contributes to neurodegenerative disease (Elden et al., 2010; Orr and Zoghbi, 2007).”
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. (2012, background): “Because Ube3a directs proteolysis via the proteasome, the deficits in synaptic function and plasticity are believed to be related to increased levels of Ube3a target proteins.”
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS (2010, neutral): “SCA2 is one of a heterogeneous group of 28 autosomal dominant hereditary ataxias 9 and is caused by polyQ tract expansions in the Ataxin-2 gene ( ATXN2 ) 10 – 13 .”
Therapeutic application of histone deacetylase inhibitors for central nervous system disorders (2008, background): “Pleiotropic mechanisms of neurodegeneration are clearly associated with the nine dominant polyglutamine disorders, including Huntington's disease, spinocerebellar ataxias (SCAs) 1, 2, 3, 6, 7 and 17, SBMA, and dentatorubropallidoluysian atrophy (DRPLA”
Microsatellite Markers in Plants and Insects. Part I: Applications of Biotechnology (2009, background): “There are more than 40 neurological, neurodegenerative, and neuromuscular disorders associated with human dis eases, which are ultimately caused by tandem repeat insta bility (Orr and Zoghbi 2007).”
Non-ATG–initiated translation directed by microsatellite expansions (2010, methodology): “Preparation of aminoacyl-tRNA synthetases and Met-tRNAi Met transformylase from Escherichia coli MRE 600 (ATCC) was performed following Stanley’s method (3).”
Potential therapeutic uses of BDNF in neurological and psychiatric disorders (2011, background): “Amino-terminal polyglutamine tracts expressed from mutant HTT are thought to confer a toxic gain of functio”
Microsatellite markers: an overview of the recent progress in plants (2011, background): “There are more than 40 neurological, neurodegenerative, and neuromuscular disorders associated with human diseases, which are ultimately caused by tandem repeat instability (Orr and Zoghbi 2007).”
Maintaining genome stability at the replication fork (2010, background): “The continuation of DNA synthesis past these elements or the abnormal replication of the repeats, most often of trinucleotide repeats, has been proposed to lead to their expansion, and this phenomenon is responsible for many human diseases and hereditary disorder”