Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

By A. Yoshida, Kazuhiro Kobayashi, H. Manya, Kiyomi Taniguchi, H. Kano, M. Mizuno, T. Inazu, H. Mitsuhashi, Seiichiro Takahashi, M. Takeuchi and 7 more. Developmental Cell, 2001

713 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/c1c228a4a8822a0504ad19e684a409a5c7a9fb3c

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1. K. Ohtsubo
2. J. Marth
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Citations in the corpus

• Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. (2002, background): “So far, O-mannose–linked glycosylation has been observed only in brain, peripheral-nerve, and muscle glycoproteins (Wing et al. 1992; Chiba et al. 1997; Yuen et al. 1997; Sasaki et al. 1998; Smalheiser et al. 1998; Chai et al. 1999).”
• Glycosylation in cellular mechanisms of health and disease. (2006, background): “However, some human muscular dystrophies are due to mutations in laminin as well as in glycosyltransferases operating in the pathway of O-mannose glycan formation on α-dystroglycan (McGowan and Marinkovich, 2000; Yoshida et al., 2001; Michele et al., 2002).”