Developmental defects in a zebrafish model for muscular dystrophies

kavin submitted, created time 7 months 2 weeks (www.ncbi.nlm.nih.gov)

In this paper, the authors have found that downregulating FKRP in zebrafish results in embryos that develop a range of abnormalities reminiscent of the developmental defects observed in human muscular dystrophies associated with mutations in FKRP.

3 comments | Blog It | Email It | Keywords: muscular dystrophy fukutin FKRP fukutin-related protein muscular dystrophies zebrafish model

Functional capacity of dystrophins carrying deletions in the N-terminal actin-binding domain

penguin submitted, created time 1 year 6 months (hmg.oxfordjournals.org)

Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the dystrophin gene. While many in-frame deletions in the dystrophin gene lead to mild cases of BMD, truncations within the N-terminal actin-binding domain (ABD1) typically decrease dystrophin expression and lead to more severe cases of BMD. Because of the large reduction in protein expression, the functional capacity of dystrophin proteins deleted for subportions of ABD1 has been difficult to ascertain. ABD1 contains three actin-binding sequences designated ABS1-3

Submit comment | Blog It | Email It | Keywords: actin-binding domain muscular dystrophies