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Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes.
Kanekura T, Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Hirabayashi Y, Yoshii N, Fukushige T, Kanzaki T. Kanekura T, et al. Among authors: matsuzawa f. J Dermatol Sci. 2005 Jan;37(1):15-20. doi: 10.1016/j.jdermsci.2004.09.005. Epub 2004 Dec 8. J Dermatol Sci. 2005. PMID: 15619430
Structural basis of the GM2 gangliosidosis B variant.
Matsuzawa F, Aikawa S, Sakuraba H, Lan HT, Tanaka A, Ohno K, Sugimoto Y, Ninomiya H, Doi H. Matsuzawa F, et al. J Hum Genet. 2003;48(11):582-9. doi: 10.1007/s10038-003-0082-7. Epub 2003 Oct 24. J Hum Genet. 2003. PMID: 14577003
44 results