Matsuzawa F - Search Results

1

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

2

Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.

Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H. Itoh K, et al. Among authors: matsuzawa f. J Hum Genet. 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7. J Hum Genet. 2002. PMID: 11829139

3

Molecular and structural studies of the GM2 gangliosidosis 0 variant.

Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Lin H, Ohno K, Tanaka A, Yamada H, Uyama E. Sakuraba H, et al. Among authors: matsuzawa f. J Hum Genet. 2002;47(4):176-83. doi: 10.1007/s100380200020. J Hum Genet. 2002. PMID: 12166653

4

Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).

Sakuraba H, Matsuzawa F, Aikawa SI, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T. Sakuraba H, et al. Among authors: matsuzawa f. J Hum Genet. 2004;49(1):1-8. doi: 10.1007/s10038-003-0098-z. Epub 2003 Dec 19. J Hum Genet. 2004. PMID: 14685826

5

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.

Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H. Matsuzawa F, et al. Hum Genet. 2005 Aug;117(4):317-28. doi: 10.1007/s00439-005-1300-5. Epub 2005 May 28. Hum Genet. 2005. PMID: 15924232

6

Prediction of the mechanism of action of omuralide (clasto-lactacystin beta-lactone) on human cathepsin A based on a structural model of the yeast proteasome beta5/PRE2-subunit/omuralide complex.

Aikawa S, Matsuzawa F, Satoh Y, Kadota Y, Doi H, Itoh K. Aikawa S, et al. Among authors: matsuzawa f. Biochim Biophys Acta. 2006 Aug;1764(8):1372-80. doi: 10.1016/j.bbapap.2006.05.008. Epub 2006 Jun 7. Biochim Biophys Acta. 2006. PMID: 16870514

7

Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase".

Tajima Y, Matsuzawa F, Aikawa SI, Okumiya T, Yoshimizu M, Tsukimura T, Ikekita M, Tsujino S, Tsuji A, Edmunds T, Sakuraba H. Tajima Y, et al. Among authors: matsuzawa f. J Hum Genet. 2007;52(11):898-906. doi: 10.1007/s10038-007-0191-9. Epub 2007 Sep 6. J Hum Genet. 2007. PMID: 17805474

8

Introduction of an N-glycan sequon into HEXA enhances human beta-hexosaminidase cellular uptake in a model of Sandhoff disease.

Matsuoka K, Tsuji D, Aikawa S, Matsuzawa F, Sakuraba H, Itoh K. Matsuoka K, et al. Among authors: matsuzawa f. Mol Ther. 2010 Aug;18(8):1519-26. doi: 10.1038/mt.2010.113. Epub 2010 Jun 22. Mol Ther. 2010. PMID: 20571546 Free PMC article.

9

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

10

A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.

Hiraoka M, Ishikawa A, Matsuzawa F, Aikawa SI, Sakurai A. Hiraoka M, et al. Among authors: matsuzawa f. Ophthalmic Genet. 2020 Dec;41(6):599-605. doi: 10.1080/13816810.2020.1821383. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940107

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