Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy.
Nat Med.
2002 Mar;8(3):253-61. doi: 10.1038/nm0302-253. PubMed PMID:
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Spectrin-like repeats from dystrophin and alpha-actinin-2 are not functionally interchangeable.
Hum Mol Genet.
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Viral vectors for gene transfer of micro-, mini-, or full-length dystrophin.
Neuromuscul Disord.
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Microdystrophin gene therapy of cardiomyopathy restores dystrophin-glycoprotein complex and improves sarcolemma integrity in the mdx mouse heart.
Circulation.
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RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia.
Nat Med.
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Efficient transduction of skeletal muscle using vectors based on adeno-associated virus serotype 6.
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Viral delivery of recombinant short hairpin RNAs.
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Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury.
Mol Ther.
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RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model.
Proc Natl Acad Sci U S A.
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CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo.
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Optimization of feline immunodeficiency virus vectors for RNA interference.
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Connecdenn, a novel DENN domain-containing protein of neuronal clathrin-coated vesicles functioning in synaptic vesicle endocytosis.
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Lentivirus-mediated RNA interference in mammalian neurons.
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Artificial miRNAs mitigate shRNA-mediated toxicity in the brain: implications for the therapeutic development of RNAi.
Proc Natl Acad Sci U S A.
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The bifunctional microRNA miR-9/miR-9* regulates REST and CoREST and is downregulated in Huntington's disease.
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Progress and challenges in RNA interference therapy for Huntington disease.
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PP2A:B56{epsilon}, a substrate of caspase-3, regulates p53-dependent and p53-independent apoptosis during development.
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DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo.
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RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).
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Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice.
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RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.
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RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.
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Molecular dissection of dystrophin identifies the docking site for nNOS.
Proc Natl Acad Sci U S A.
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Dose-dependent Toxicity of Humanized Renilla reniformis GFP (hrGFP) Limits Its Utility as a Reporter Gene in Mouse Muscle.
Mol Ther Nucleic Acids.
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RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice.
Mol Ther Nucleic Acids.
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Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences.
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Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD.
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AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD.
JCI Insight.
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RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro.
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Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.
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Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next.
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Meeting report: the 2020 FSHD International Research Congress.
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Is Upregulation of Sarcolipin Beneficial or Detrimental to Muscle Function?.
Front Physiol.
2021;12:633058. doi: 10.3389/fphys.2021.633058. eCollection 2021. PubMed PMID:
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Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes.
Mol Ther Nucleic Acids.
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An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models.
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The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors.
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2022 Oct;596(20):2644-2658. doi: 10.1002/1873-3468.14416. Epub 2022 Jun 15. PubMed PMID:
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Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models.
Ann Neurol.
2023 Aug;94(2):398-413. doi: 10.1002/ana.26668. Epub 2023 May 19. PubMed PMID:
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