Ishii S - Search Results

1

Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.

Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y. Ishii S, et al. Ann Neurol. 1991 May;29(5):560-4. doi: 10.1002/ana.410290517. Ann Neurol. 1991. PMID: 1650161

2

Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

Ishii S, Sakuraba H, Suzuki Y. Ishii S, et al. Hum Genet. 1992 Apr;89(1):29-32. doi: 10.1007/BF00207037. Hum Genet. 1992. PMID: 1315715

3

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.

Okumiya T, Ishii S, Takenaka T, Kase R, Kamei S, Sakuraba H, Suzuki Y. Okumiya T, et al. Among authors: ishii s. Biochem Biophys Res Commun. 1995 Sep 25;214(3):1219-24. doi: 10.1006/bbrc.1995.2416. Biochem Biophys Res Commun. 1995. PMID: 7575533

4

The functional role of glutamine-280 and threonine-282 in human alpha-galactosidase.

Ishii S, Kase R, Sakuraba H, Suzuki Y. Ishii S, et al. Biochim Biophys Acta. 1995 Apr 24;1270(2-3):163-7. doi: 10.1016/0925-4439(94)00082-2. Biochim Biophys Acta. 1995. PMID: 7727539 Free article.

Our previous study on chimeric mutants of alpha-galactosidase suggested that two peptide regions encoded by exons 1-2 and 6 of the enzyme gene contribute to substrate recognition (Ishii, S. et al. (1994) Biochim. Biophys. Acta 1204, 265-270). In this study, we const …

Our previous study on chimeric mutants of alpha-galactosidase suggested that two peptide regions encoded by exons 1-2 and 6 of the enzyme ge …

5

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.

Okumiya T, Ishii S, Kase R, Kamei S, Sakuraba H, Suzuki Y. Okumiya T, et al. Among authors: ishii s. Hum Genet. 1995 May;95(5):557-61. doi: 10.1007/BF00223869. Hum Genet. 1995. PMID: 7759078

6

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.

Ishii S, Kase R, Sakuraba H, Suzuki Y. Ishii S, et al. Biochem Biophys Res Commun. 1993 Dec 30;197(3):1585-9. doi: 10.1006/bbrc.1993.2659. Biochem Biophys Res Commun. 1993. PMID: 7904161

7

Human alpha-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6.

Ishii S, Kase R, Sakuraba H, Fujita S, Sugimoto M, Tomita K, Semba T, Suzuki Y. Ishii S, et al. Biochim Biophys Acta. 1994 Feb 16;1204(2):265-70. doi: 10.1016/0167-4838(94)90017-5. Biochim Biophys Acta. 1994. PMID: 8142468

8

Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum.

Ishii S, Kase R, Okumiya T, Sakuraba H, Suzuki Y. Ishii S, et al. Biochem Biophys Res Commun. 1996 Mar 27;220(3):812-5. doi: 10.1006/bbrc.1996.0486. Biochem Biophys Res Commun. 1996. PMID: 8607847

9

Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease.

Okumiya T, Takenaka T, Ishii S, Kase R, Kamei S, Sakuraba H. Okumiya T, et al. Among authors: ishii s. Jpn J Hum Genet. 1996 Sep;41(3):313-21. doi: 10.1007/BF01913174. Jpn J Hum Genet. 1996. PMID: 8996967

10

Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.

Shimmoto M, Kase R, Itoh K, Utsumi K, Ishii S, Taya C, Yonekawa H, Sakuraba H. Shimmoto M, et al. Among authors: ishii s. FEBS Lett. 1997 Nov 3;417(1):89-91. doi: 10.1016/s0014-5793(97)01263-5. FEBS Lett. 1997. PMID: 9395081 Free article.

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