Article
Basement membrane fragility underlies embryonic lethality in fukutin-null mice.
Neurobiology of disease - 1 Jan 2000
Kurahashi Hiroki, Taniguchi Mariko, Meno Chikara, Taniguchi Yoshihiro, Takeda Satoshi, Horie Masato, Otani Hiroki, Toda Tatsushi
Abstract excerpt
Fukuyama-type congenital muscular dystrophy (FCMD), associated with brain malformation due to defects in neuronal migration, is caused by mutations in fukutin. Several lines of evidence suggest that the fukutin protein plays a pivotal role in synthesis of O-mannosyl sugar moieties of alpha-dystroglycan, a cell surface laminin receptor. Here, through targeted disruption of the orthologous mouse fukutin gene, we...
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