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• W2891233048 abstract "Zebrafish are a powerful tool for studying muscle function owing to their high numbers of offspring, low maintenance costs, evolutionarily conserved muscle functions, and the ability to rapidly take up small molecular compounds during early larval stages. Fukutin-related protein (FKRP) is a putative protein glycosyltransferase that functions in the Golgi apparatus to modify sugar chain molecules of newly translated proteins. Patients with mutations in the FKRP gene can have a wide spectrum of clinical symptoms with varying muscle, eye, and brain pathologies depending on the location of the mutation in the FKRP protein. Patients with a common L276I FKRP mutation have mild adult-onset muscle degeneration known as limb-girdle muscular dystrophy 2I (LGMD2I), whereas patients with more C-terminal pathogenic mutations develop the severe Walker-Warburg syndrome (WWS)/muscle-eye-brain (MEB) disease. We generated fkrp-mutant zebrafish that phenocopy WWS/MEB pathologies including severe muscle breakdowns, head malformations, and early lethality. We have also generated a milder LGMD2I-model zebrafish via overexpression of a heat shock–inducible human FKRP (L276I) transgene that shows milder muscle pathology. Screening of an FDA-approved drug compound library in the LGMD2I zebrafish revealed a strong propensity towards steroids, antibacterials, and calcium regulators in ameliorating FKRP-dependent pathologies. Together, these studies demonstrate the utility of the zebrafish to both study human-specific FKRP mutations and perform compound library screenings for corrective drug compounds to treat muscular dystrophies." @default.
• W2891233048 created "2018-09-27" @default.
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• W2891233048 date "2018-09-20" @default.
• W2891233048 modified "2023-10-18" @default.
• W2891233048 title "A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies" @default.
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• W2891233048 cites W1500154167 @default.
• W2891233048 cites W1533974667 @default.
• W2891233048 cites W1593078807 @default.
• W2891233048 cites W1888941810 @default.
• W2891233048 cites W1951609915 @default.
• W2891233048 cites W1957214236 @default.
• W2891233048 cites W1965520671 @default.
• W2891233048 cites W1967740895 @default.
• W2891233048 cites W1968990159 @default.
• W2891233048 cites W1970400951 @default.
• W2891233048 cites W1981064211 @default.
• W2891233048 cites W1985759834 @default.
• W2891233048 cites W1990411810 @default.
• W2891233048 cites W1998005699 @default.
• W2891233048 cites W2008980136 @default.
• W2891233048 cites W2014257070 @default.
• W2891233048 cites W2018753432 @default.
• W2891233048 cites W2021233258 @default.
• W2891233048 cites W2025074364 @default.
• W2891233048 cites W2055378266 @default.
• W2891233048 cites W2057193556 @default.
• W2891233048 cites W2057669364 @default.
• W2891233048 cites W2059303091 @default.
• W2891233048 cites W2061447271 @default.
• W2891233048 cites W2061697489 @default.
• W2891233048 cites W2062628051 @default.
• W2891233048 cites W2064755736 @default.
• W2891233048 cites W2068169334 @default.
• W2891233048 cites W2068874303 @default.
• W2891233048 cites W2069667065 @default.
• W2891233048 cites W2072556329 @default.
• W2891233048 cites W2073724408 @default.
• W2891233048 cites W2078487259 @default.
• W2891233048 cites W2081550861 @default.
• W2891233048 cites W2084001805 @default.
• W2891233048 cites W2087264052 @default.
• W2891233048 cites W2099582158 @default.
• W2891233048 cites W2104753172 @default.
• W2891233048 cites W2107277218 @default.
• W2891233048 cites W2110237175 @default.
• W2891233048 cites W2111591442 @default.
• W2891233048 cites W2112793285 @default.
• W2891233048 cites W2114181357 @default.
• W2891233048 cites W2116244848 @default.
• W2891233048 cites W2116313994 @default.
• W2891233048 cites W2131404238 @default.
• W2891233048 cites W2132728036 @default.
• W2891233048 cites W2139905522 @default.
• W2891233048 cites W2148269129 @default.
• W2891233048 cites W2149168171 @default.
• W2891233048 cites W2150337400 @default.
• W2891233048 cites W2155117797 @default.
• W2891233048 cites W2159993472 @default.
• W2891233048 cites W2161533644 @default.
• W2891233048 cites W2162749661 @default.
• W2891233048 cites W2166185718 @default.
• W2891233048 cites W2170867495 @default.
• W2891233048 cites W2171805399 @default.
• W2891233048 cites W2172668533 @default.
• W2891233048 cites W2192080449 @default.
• W2891233048 cites W2338009285 @default.
• W2891233048 cites W2528819409 @default.
• W2891233048 cites W2529186728 @default.
• W2891233048 cites W2545586732 @default.
• W2891233048 cites W2562165338 @default.
• W2891233048 cites W2575489075 @default.
• W2891233048 cites W2591819559 @default.
• W2891233048 cites W2592956086 @default.
• W2891233048 cites W2593808123 @default.
• W2891233048 cites W2730723476 @default.
• W2891233048 cites W2774342749 @default.
• W2891233048 cites W2790719820 @default.
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• W2891233048 doi "https://doi.org/10.1172/jci.insight.120493" @default.
• W2891233048 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6237228" @default.
• W2891233048 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30232282" @default.
• W2891233048 hasPublicationYear "2018" @default.
• W2891233048 type Work @default.
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