Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere–membrane interaction, not sarcomere assembly
نویسندگان
چکیده
منابع مشابه
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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Department of Physiology and Biophysics, and Medicine, Robert Wood Johnson Medical School, 675 Hoes Lane, Piscataway, NJ 08854, USA. Department of Anatomy, Saitama Medical School, Saitama 350-0495, Japan.Department of Internal Medicine, Kawasaki Medical School, Kurashiki, Japan. Department of Biological Chemistry, Kyoto University Graduate School of Pharmaceutical Sciences, Kyoto 606-8501, Japa...
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1. Large-scale mutagenic screens of the zebrafish genome have identified a number of different classes of mutations that disrupt skeletal muscle formation. Of particular interest and relevance to human health is a class of recessive lethal mutations in which muscle differentiation occurs normally, but is followed by tissue-specific degeneration reminiscent of human muscular dystrophies. 2. We h...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2009
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddp362