Home‐based biofeedback speech treatment improves dysarthria in repeat‐expansion SCAs
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51613
Abstract: CAG repeat‐expansion spinocerebellar ataxias (CAG‐SCAs) are genetically defined multisystemic degenerative diseases, resulting in motor symptoms including dysarthria with a substantial impact on daily living. Whilst speech therapy is widely recommended in ataxia, very limited evidence… read more here.
Keywords: repeat expansion; home; treatment; speech ... See more keywords
GGC Repeat Expansion in NOTCH2NLC is rare in European Leukoencephalopathy.
Sign Up to like & getrecommendations! Published in 2020 at "Annals of neurology"
DOI: 10.1002/ana.25818
Abstract: through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1002/ana.25818 GGC Repeat Expansion in NOTCH2NLC is rare… read more here.
Keywords: ggc repeat; expansion notch2nlc; repeat expansion; european leukoencephalopathy ... See more keywords
GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders
Sign Up to like & getrecommendations! Published in 2022 at "Annals of Neurology"
DOI: 10.1002/ana.26325
Abstract: CGG/GGC repeat expansion in FMR1 and NOTCH2NLC is reportedly associated with movement disorders; therefore, we hypothesized that the CGG repeat expansion in LRP12, NUTM2B‐AS1, and GIPC1, which was previously identified in myopathy, might also be… read more here.
Keywords: repeat expansion; movement disorders; associated movement; repeat ... See more keywords
Mystery of Expansion: DNA Metabolism and Unstable Repeats.
Sign Up to like & getrecommendations! Published in 2020 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-030-41283-8_7
Abstract: The mammalian genome mostly contains repeated sequences. Some of these repeats are in the regulatory elements of genes, and their instability, particularly the propensity to change the repeat unit number, is responsible for 36 well-known… read more here.
Keywords: dna metabolism; expansion; metabolism; expansion dna ... See more keywords
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
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
Sign Up to like & getrecommendations! Published in 2022 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2022.01.012
Abstract: Recent studies indicate that CGG repeat expansions in LRP12, GIPC1, and NOTCH2NLC are associated with oculopharyngodistal myopathy (OPDM) types 1, 2, and 3, respectively. However, some clinicopathologically confirmed OPDM cases continue to have unknown genetic… read more here.
Keywords: repeat; associated oculopharyngodistal; cgg repeat; repeat expansion ... See more keywords
FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington’s disease
Sign Up to like & getrecommendations! Published in 2021 at "Cell Reports"
DOI: 10.1016/j.celrep.2021.109649
Abstract: Summary CAG repeat expansion in the HTT gene drives Huntington’s disease (HD) pathogenesis and is modulated by DNA damage repair pathways. In this context, the interaction between FAN1, a DNA-structure-specific nuclease, and MLH1, member of… read more here.
Keywords: expansion; fan1; cag repeat; repeat expansion ... See more keywords
No association of CpG SNP rs9357140 with onset age in Belgian C9orf72 repeat expansion carriers
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2020.07.021
Abstract: We investigated the impact of the recently described chromosome 6 open reading frame 10 (C6orf10)/LOC101929163 locus as age-at-onset modifier in an extended cohort of Belgian chromosome 9 open reading frame 72 (C9orf72) G4C2 repeat expansion… read more here.
Keywords: c9orf72 repeat; expansion carriers; age; repeat ... See more keywords
Optimization of the Linker Domain in a Dimeric Compound that Degrades an r(CUG) Repeat Expansion in Cells.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of medicinal chemistry"
DOI: 10.1021/acs.jmedchem.0c00558
Abstract: RNA repeat expansions are responsible for more than 30 incurable diseases. Among them is myotonic dystrophy type 1 (DM1), the most common form of adult on-set muscular dystrophy. DM1 is caused by an r(CUG) repeat… read more here.
Keywords: expansion; optimization linker; compound; repeat expansion ... See more keywords
Nucleobase Clustering Contributes to the Formation and Hollowing of Repeat-Expansion RNA Condensate.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the American Chemical Society"
DOI: 10.1021/jacs.1c12085
Abstract: RNA molecules with repeat expansion sequences can phase separate into gel-like condensate, which could lead to neurodegenerative diseases. Here, we report that, in the presence of Mg2+, RNA molecules containing 20× CAG repeats self-assemble into… read more here.
Keywords: clustering contributes; repeat expansion; nucleobase clustering; condensate ... See more keywords