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7 results for “repeat expansion”

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  1. MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophy.

    Neurobiology of disease · 2026 · 221: 107305

    Myotonic dystrophy type 1 (DM1) arises from toxic CUG-expanded DMPK transcripts that sequester Muscleblind-like (MBNL) proteins, yet how this molecular lesion perturbs brain development in congenital DM1 (CDM) remains unknown. Here, we identify an unanticipated developmental role for MBNL2 in …

    PMID 41644016 DOI ↗

  2. MECP2-related pathways are dysregulated in a cortical organoid model of myotonic dystrophy.

    Science translational medicine · 2022 · 14(651): eabn2375

    Myotonic dystrophy type 1 (DM1) is a multisystem, autosomal-dominant inherited disorder caused by CTG microsatellite repeat expansions (MREs) in the 3' untranslated region of the dystrophia myotonica-protein kinase (<i>DMPK</i>) gene. Despite its prominence as the most common adult-onset muscular dystrophy, …

    PMID 35767654 DOI ↗

  3. The sustained expression of Cas9 targeting toxic RNAs reverses disease phenotypes in mouse models of myotonic dystrophy type 1.

    Nature biomedical engineering · 2021 · 5(2): 157-168

    Myotonic dystrophy type I (DM1) is a multisystemic autosomal-dominant inherited human disorder that is caused by CTG microsatellite repeat expansions (MREs) in the 3' untranslated region of DMPK. Toxic RNAs expressed from such repetitive sequences can be eliminated using CRISPR-mediated …

    PMID 32929188 DOI ↗

  4. Repeat RNA expansion disorders of the nervous system: post-transcriptional mechanisms and therapeutic strategies.

    Critical reviews in biochemistry and molecular biology · 2021 · 56(1): 31-53

    Dozens of incurable neurological disorders result from expansion of short repeat sequences in both coding and non-coding regions of the transcriptome. Short repeat expansions underlie microsatellite repeat expansion (MRE) disorders including myotonic dystrophy (DM1, CUG<sub>50-3,500</sub> in <i>DMPK</i>; DM2, CCTG<sub>75-11,000</sub> in …

    PMID 33172304 DOI ↗

  5. Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9.

    Cell · 2017 · 170(5): 899-912.e10

    Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington's disease, and C9orf72-linked amyotrophic lateral sclerosis (C9-ALS). Means to target these repetitive RNAs are required for …

    PMID 28803727 DOI ↗

  6. PPAR-δ is repressed in Huntington's disease, is required for normal neuronal function and can be targeted therapeutically.

    Nature medicine · 2016 · 22(1): 37-45

    Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG trinucleotide repeat expansion in the huntingtin (HTT) gene, which encodes a polyglutamine tract in the HTT protein. We found that peroxisome proliferator-activated receptor delta (PPAR-δ) interacts with HTT …

    PMID 26642438 DOI ↗

  7. Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.

    Proceedings of the National Academy of Sciences of the United States of America · 2013 · 110(47): E4530-9

    Expanded hexanucleotide repeats in the chromosome 9 open reading frame 72 (C9orf72) gene are the most common genetic cause of ALS and frontotemporal degeneration (FTD). Here, we identify nuclear RNA foci containing the hexanucleotide expansion (GGGGCC) in patient cells, including …

    PMID 24170860 DOI ↗

Datasets 4

GSE315443 GSE · GEO

MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophy [scRNA-Seq]

GPL24676

GSE315026 GSE · GEO

MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophy [eCLIP]

GPL24676

GSE201897 GSE · GEO

MECP2-related pathways are dysregulated in a cortical organoid model of Myotonic dystrophy [bulk RNA-Seq]

Homo sapiens · GPL24676

GSE201895 GSE · GEO

MECP2-related pathways are dysregulated in a cortical organoid model of Myotonic dystrophy [eCLIP]

Homo sapiens · GPL16791

Analyses 1

GSE100943 Processing Pipeline

GSE100943 · 7 steps · RNA-Seq · code_examples

Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9. (2017)