Proteinopathies associated to repeat expansion disorders
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neural Transmission"
DOI: 10.1007/s00702-021-02454-5
Abstract: The most common neurodegenerative disorders, such as Alzheimer’s or Parkinson’s diseases, are characterized by synaptic dysfunction, neuronal loss and proteinaceous aggregates in central nervous system. The deposition of misfolded proteins constitutes neuropathological hallmarks of these… read more here.
Keywords: associated repeat; repeat expansion; expansion disorders; expansion ... See more keywords
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Sign Up to like & getrecommendations! Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.03.011
Abstract: Tandem repeats represent one of the most abundant class of variations in human genomes, which are polymorphic by nature and become highly unstable in a length-dependent manner. The expansion of repeat length across generations is… read more here.
Keywords: years repeat; expansion; genetics; disorders learned ... See more keywords
Mechanisms of repeat-associated non-AUG translation in neurological microsatellite expansion disorders
Sign Up to like & getrecommendations! Published in 2021 at "Biochemical Society Transactions"
DOI: 10.1042/bst20200690
Abstract: Repeat-associated non-AUG (RAN) translation was discovered in 2011 in spinocerebellar ataxia type 8 (SCA8) and myotonic dystrophy type 1 (DM1). This non-canonical form of translation occurs in all reading frames from both coding and non-coding… read more here.
Keywords: translation; repeat; expansion disorders; repeat associated ... See more keywords
RNA Helicases in Microsatellite Repeat Expansion Disorders and Neurodegeneration
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DOI: 10.3389/fgene.2022.886563
Abstract: Short repeated sequences of 3−6 nucleotides are causing a growing number of over 50 microsatellite expansion disorders, which mainly present with neurodegenerative features. Although considered rare diseases in relation to the relatively low number of… read more here.
Keywords: rna helicases; microsatellite repeat; repeat expansion; expansion disorders ... See more keywords
G-Quadruplexes in Repeat Expansion Disorders
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24032375
Abstract: The repeat expansions are the main genetic cause of various neurodegeneration diseases. More than ten kinds of repeat sequences with different lengths, locations, and structures have been confirmed in the past two decades. G-rich repeat… read more here.
Keywords: repeat expansion; quadruplexes repeat; expansion disorders;