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• W1975778977 endingPage "3342" @default.
• W1975778977 startingPage "3330" @default.
• W1975778977 abstract "Dystroglycan is a transmembrane glycoprotein that links the extracellular basement membrane to cytoplasmic dystrophin. Disruption of the extensive carbohydrate structure normally present on α-dystroglycan causes an array of congenital and limb girdle muscular dystrophies known as dystroglycanopathies. The essential role of dystroglycan in development has hampered elucidation of the mechanisms underlying dystroglycanopathies. Here, we developed a dystroglycanopathy mouse model using inducible or muscle-specific promoters to conditionally disrupt fukutin (Fktn), a gene required for dystroglycan processing. In conditional Fktn-KO mice, we observed a near absence of functionally glycosylated dystroglycan within 18 days of gene deletion. Twenty-week-old KO mice showed clear dystrophic histopathology and a defect in glycosylation near the dystroglycan O-mannose phosphate, whether onset of Fktn excision driven by muscle-specific promoters occurred at E8 or E17. However, the earlier gene deletion resulted in more severe phenotypes, with a faster onset of damage and weakness, reduced weight and viability, and regenerating fibers of smaller size. The dependence of phenotype severity on the developmental timing of muscle Fktn deletion supports a role for dystroglycan in muscle development or differentiation. Moreover, given that this conditional Fktn-KO mouse allows the generation of tissue- and timing-specific defects in dystroglycan glycosylation, avoids embryonic lethality, and produces a phenotype resembling patient pathology, it is a promising new model for the study of secondary dystroglycanopathy." @default.
• W1975778977 created "2016-06-24" @default.
• W1975778977 creator A5022729962 @default.
• W1975778977 creator A5023192733 @default.
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• W1975778977 creator A5085822063 @default.
• W1975778977 date "2012-09-04" @default.
• W1975778977 modified "2023-10-17" @default.
• W1975778977 title "Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy" @default.
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• W1975778977 cites W1917014434 @default.
• W1975778977 cites W1952579501 @default.
• W1975778977 cites W1963757547 @default.
• W1975778977 cites W1967387547 @default.
• W1975778977 cites W1968666078 @default.
• W1975778977 cites W1969570221 @default.
• W1975778977 cites W1972695095 @default.
• W1975778977 cites W1973410416 @default.
• W1975778977 cites W1974360702 @default.
• W1975778977 cites W1974726592 @default.
• W1975778977 cites W1979901925 @default.
• W1975778977 cites W1980795601 @default.
• W1975778977 cites W1981447099 @default.
• W1975778977 cites W1981850472 @default.
• W1975778977 cites W1988393390 @default.
• W1975778977 cites W1988657973 @default.
• W1975778977 cites W1999563094 @default.
• W1975778977 cites W1999616824 @default.
• W1975778977 cites W2007152754 @default.
• W1975778977 cites W2008115339 @default.
• W1975778977 cites W2012895375 @default.
• W1975778977 cites W2012973105 @default.
• W1975778977 cites W2014365140 @default.
• W1975778977 cites W2015198767 @default.
• W1975778977 cites W2016219819 @default.
• W1975778977 cites W2021233258 @default.
• W1975778977 cites W2022146692 @default.
• W1975778977 cites W2024314833 @default.
• W1975778977 cites W2026355265 @default.
• W1975778977 cites W2029066095 @default.
• W1975778977 cites W2029488853 @default.
• W1975778977 cites W2040418570 @default.
• W1975778977 cites W2041652972 @default.
• W1975778977 cites W2043603340 @default.
• W1975778977 cites W2047015778 @default.
• W1975778977 cites W2047850625 @default.
• W1975778977 cites W2056602792 @default.
• W1975778977 cites W2058140775 @default.
• W1975778977 cites W2059296512 @default.
• W1975778977 cites W2061697489 @default.
• W1975778977 cites W206203476 @default.
• W1975778977 cites W2062628051 @default.
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• W1975778977 cites W2073724408 @default.
• W1975778977 cites W2075506671 @default.
• W1975778977 cites W2077335072 @default.
• W1975778977 cites W2077411549 @default.
• W1975778977 cites W2080592158 @default.
• W1975778977 cites W2081535578 @default.
• W1975778977 cites W2084782873 @default.
• W1975778977 cites W2092541957 @default.
• W1975778977 cites W2092709351 @default.
• W1975778977 cites W2094828965 @default.
• W1975778977 cites W2101026420 @default.
• W1975778977 cites W2102354071 @default.
• W1975778977 cites W2105232838 @default.
• W1975778977 cites W2105419228 @default.
• W1975778977 cites W2116244848 @default.
• W1975778977 cites W2122629325 @default.
• W1975778977 cites W2123191172 @default.
• W1975778977 cites W2124032562 @default.
• W1975778977 cites W2124439071 @default.
• W1975778977 cites W2132893945 @default.
• W1975778977 cites W2135383773 @default.
• W1975778977 cites W2136354033 @default.
• W1975778977 cites W2138530343 @default.
• W1975778977 cites W2140969193 @default.
• W1975778977 cites W2143987989 @default.
• W1975778977 cites W2144557392 @default.
• W1975778977 cites W2148034459 @default.
• W1975778977 cites W2148269129 @default.
• W1975778977 cites W2151220573 @default.
• W1975778977 cites W2153776008 @default.
• W1975778977 cites W2157499009 @default.
• W1975778977 cites W2158184768 @default.
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• W1975778977 doi "https://doi.org/10.1172/jci63004" @default.
• W1975778977 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3428090" @default.
• W1975778977 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22922256" @default.

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