Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere–membrane interaction, not sarcomere assembly

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Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly.

Tcap/telethonin encodes a Z-disc protein that plays important roles in sarcomere assembly, sarcomere-membrane interaction and stretch sensing. It remains unclear why mutations in Tcap lead to limb-girdle muscular dystrophy 2G (LGMD2G) in human patients. Here, we cloned tcap in zebrafish and conducted genetic studies. We show that tcap is functionally conserved, as the Tcap protein appears in th...

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The proteasomal inhibitor MG132 prevents muscular dystrophy in zebrafish Œ PLOS Currents Muscular Dystrophy

Using sapje zebrafish which lack dystrophin, we have assessed both the quantitation of muscle damage in dystrophic fish, and the efficacy of the proteasomal inhibitor MG132 in reducing the dystrophic symptoms. Fourier analysis of birefringence patterns in normal and dystrophic fish was found to be a simple and reliable quantitative measure of muscle damage. MG132, as in mdx mouse, was found to ...

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Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G

TCAP encoded telethonin is a 19 kDa protein, which plays an important role in anchoring titin in Z disc of the sarcomere, and is known to cause LGMD2G, a rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. A total of 300 individuals with ARLGMD were recruited for this study. Among these we identified 8 clinically well character...

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Identification of a zebrafish model of muscular dystrophy.

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ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 2009

ISSN: 1460-2083,0964-6906

DOI: 10.1093/hmg/ddp362