Zebrafish models for human FKRP muscular dystrophies
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چکیده
منابع مشابه
Zebrafish models for human FKRP muscular dystrophies
Various muscular dystrophies are associated with the defective glycosylation of alpha-dystroglycan and are known to result from mutations in genes encoding glycosyltransferases. Fukutin-related protein (FKRP) was identified as a homolog of fukutin, the defective protein in Fukuyama-type congenital muscular dystrophy (FCMD), that is thought to function as a glycosyltransferase. Mutations in FKRP...
متن کاملDevelopmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP).
A number of muscular dystrophies are associated with the defective glycosylation of alpha-dystroglycan and many are now known to result from mutations in a number of genes encoding putative or known glycosyltransferases. These diseases include severe forms of congenital muscular dystrophy (CMD) such as Fukuyama type congenital muscular dystrophy (FCMD), Muscle-Eye-Brain disease (MEB) and Walker...
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A new and exciting phase of muscle disease research has recently been entered. The application of next generation sequencing technology has spurred an unprecedented era of gene discovery for both myopathies and muscular dystrophies. Gene-based therapies for Duchenne muscular dystrophy have entered clinical trial, and several pathway-based therapies are doing so as well for a handful of muscle d...
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The muscular dystrophies are inherited myogenic disorders characterised by progressive muscle wasting and weakness of variable distribution and severity. They can be subdivided into several groups, including congenital forms, in accordance with the distribution of predominant muscle weakness: Duchenne and Becker; Emery-Dreifuss; distal; facioscapulohumeral; oculopharyngeal; and limb-girdle whic...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2009
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddp528