LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies-Reference-Cited by-同舟云学术

LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies

Published:2004-06-06 Issue:7 Volume:10 Page:696-703
ISSN:1078-8956
Container-title:Nature Medicine
language:en
Short-container-title:Nat Med

Author:

Barresi Rita,Michele Daniel E,Kanagawa Motoi,Harper Hollie A,Dovico Sherri A,Satz Jakob S,Moore Steven A,Zhang Wenli,Schachter Harry,Dumanski Jan P,Cohn Ronald D,Nishino Ichizo,Campbell Kevin P

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

http://www.nature.com/articles/nm1059.pdf

Reference39 articles.

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2. Toda, T., Kobayashi, K., Kondo-Iida, E., Sasaki, J. & Nakamura, Y. The Fukuyama congenital muscular dystrophy story. Neuromuscul. Disord. 10, 153–159 (2000).

3. Dobyns, W.B. et al. Diagnostic criteria for Walker-Warburg syndrome. Am. J. Med. Genet. 32, 195–210 (1989).

4. Yoshida, A. et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1, 717–724 (2001).

5. Beltran-Valero De Bernabe, D. et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71, 1033–1043 (2002).

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