Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles

By Jennifer R. Gatchel, H. Zoghbi. Nature reviews genetics, 2005

794 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/d071dc578b495c55fa11de6552aea5edc4f85af7

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In Cellular and Molecular Neuroscience

1. S. Alberti
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3. D. Holtzman
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In Genetics

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In Molecular Biology

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Citations in the corpus

• Splicing in disease: disruption of the splicing code and the decoding machinery (2007, background): “Naturally occurring repeats of 3–10 nucleotides within transcribed genomic regions that expand beyond pathogenic thresholds cause microsatellite-expansion disorder”
• Liquid-Liquid Phase Separation in Disease. (2019, background): “In all these disorders, the disease manifests only beyond a critical number of repeats within the gene (58) and”
• RNA-binding proteins in human genetic disease. (2008, neutral): “CAG- or CTG-repeat expansions in SCA Splicing [ 99 ]”
• Hallmarks of neurodegenerative diseases. (2023, positive): “28,44,53,54,56,57,65 Mislocalized TDP-43, which functions as an RNA-binding protein, causes altered RNA splicing, RNA stability, and RNA transport.”
• Detection of long repeat expansions from PCR-free whole-genome sequence data (2016, background): “Many pathogenic repeat expansions have repeats spanning hundreds to thousands of base pairs (Gatchel and Zoghbi 2005; Kronquist et al. 2008; Dürr et al. 1996; Gijselinck et al. 2016), so it has been assumed that short-read sequencing technologies may not be able to identify pathogenic repeat…”
• Variable tandem repeats accelerate evolution of coding and regulatory sequences. (2010, background): “Huntingtin is a large multifunctional scaffold protein with many interacting partners, and it plays a role in numerous cellular functions, mainly transcription, transport, and signaling (39).”
• RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention (2013, positive): “Repeat expansions are classified as coding or noncoding according to their gene location, and the disease-causing mechanisms include protein gain-of-function (Huntington’s disease, HD), protein loss-of-function (FRAXA, FRDA), toxic RNA gainof-function (DM1&2) (for reviews, see Brouwer et al., 2009; ”