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Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation.
Sato S, Omori Y, Katoh K, Kondo M, Kanagawa M, Miyata K, Funabiki K, Koyasu T, Kajimura N, Miyoshi T, Sawai H, Kobayashi K, Tani A, Toda T, Usukura J, Tano Y, Fujikado T, Furukawa T. Sato S, et al. Among authors: kobayashi k. Nat Neurosci. 2008 Aug;11(8):923-31. doi: 10.1038/nn.2160. Epub 2008 Jul 20. Nat Neurosci. 2008. PMID: 18641643
Deficiency of alpha-dystroglycan in muscle-eye-brain disease.
Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Kano H, et al. Among authors: kobayashi k. Biochem Biophys Res Commun. 2002 Mar 15;291(5):1283-6. doi: 10.1006/bbrc.2002.6608. Biochem Biophys Res Commun. 2002. PMID: 11883957
Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.
Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, Misaki K, Fukui T, Kobayashi K, Tachikawa M, Imamura M, Nakamura Y, Shimizu T, Murakami T, Sunada Y, Fujikado T, Matsumura K, Terashima T, Toda T. Takeda S, et al. Among authors: kobayashi k. Hum Mol Genet. 2003 Jun 15;12(12):1449-59. doi: 10.1093/hmg/ddg153. Hum Mol Genet. 2003. PMID: 12783852
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Toda T, et al. Among authors: kobayashi k. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. doi: 10.1111/j.1741-4520.2003.tb01033.x. Congenit Anom (Kyoto). 2003. PMID: 12893968 Review.
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