Article
The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice.
Human molecular genetics - 1 Apr 2014
Whitmore Charlotte, Fernandez-Fuente Marta, Booler Helen, Parr Callum, Kavishwar Manoli, Ashraf Attia, Lacey Erica, Kim Jihee, Terry Rebecca, Ackroyd Mark R, Wells Kim E, Muntoni Francesco, Wells Dominic J, Brown Susan C
Abstract excerpt
Mutations in fukutin-related protein (FKRP) underlie a group of muscular dystrophies associated with the hypoglycosylation of α-dystroglycan (α-DG), a proportion of which show central nervous system involvement. Our original FKRP knock-down mouse (FKRP(KD)) replicated many of the characteristics seen in patients at the severe end of the dystroglycanopathy spectrum but died perinatally precluding its full...
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