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Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease.
Ishii S, Yoshioka H, Mannen K, Kulkarni AB, Fan JQ. Ishii S, et al. Biochim Biophys Acta. 2004 Nov 5;1690(3):250-7. doi: 10.1016/j.bbadis.2004.07.001. Biochim Biophys Acta. 2004. PMID: 15511632
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ. Ishii S, et al. Am J Hum Genet. 2002 Apr;70(4):994-1002. doi: 10.1086/339431. Epub 2002 Feb 4. Am J Hum Genet. 2002. PMID: 11828341 Free PMC article.
The sequence of the patient's intron 4 contains a single G-->A transversion at genomic nt 9331 (IVS4+919 G-->A ), located at the minus sign4 position of the 3' end of the intronic insertion (nts 9278--9334 in the genomic sequence). ...
The sequence of the patient's intron 4 contains a single G-->A transversion at genomic nt 9331 (IVS4+919 G-->A ), located at th …
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ. Ishii S, et al. Biochem J. 2007 Sep 1;406(2):285-95. doi: 10.1042/BJ20070479. Biochem J. 2007. PMID: 17555407 Free PMC article.
Pharmacological chaperone therapy for Fabry disease.
Ishii S. Ishii S. Proc Jpn Acad Ser B Phys Biol Sci. 2012;88(1):18-30. doi: 10.2183/pjab.88.18. Proc Jpn Acad Ser B Phys Biol Sci. 2012. PMID: 22241068 Free PMC article.
Rescue of mutant alpha-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes.
Hamanaka R, Shinohara T, Yano S, Nakamura M, Yasuda A, Yokoyama S, Fan JQ, Kawasaki K, Watanabe M, Ishii S. Hamanaka R, et al. Biochim Biophys Acta. 2008 Jun;1782(6):408-13. doi: 10.1016/j.bbadis.2008.03.001. Epub 2008 Mar 12. Biochim Biophys Acta. 2008. PMID: 18381081
Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease.
Ishii S, Chang HH, Yoshioka H, Shimada T, Mannen K, Higuchi Y, Taguchi A, Fan JQ. Ishii S, et al. J Pharmacol Exp Ther. 2009 Mar;328(3):723-31. doi: 10.1124/jpet.108.149054. Epub 2008 Dec 23. J Pharmacol Exp Ther. 2009. PMID: 19106170
It has been shown that protein misfolding is primarily responsible for the enzyme deficiency in a large proportion of mutations identified in Fabry patients with residual enzyme activity, and 1-deoxygalactonojirimycin (DGJ) can effectively increase the residual enzyme activity in …
It has been shown that protein misfolding is primarily responsible for the enzyme deficiency in a large proportion of mutations identified i …
Screening for Fabry Disease in Japanese Patients with Young-Onset Stroke by Measuring α-Galactosidase A and Globotriaosylsphingosine.
Kinoshita N, Hosomi N, Matsushima H, Nakamori M, Yagita Y, Yamawaki T, Torii T, Kitamura T, Sueda Y, Shimomura R, Araki M, Nezu T, Aoki S, Ishii S, Maruyama H, Matsumoto M, Maruyama H. Kinoshita N, et al. J Stroke Cerebrovasc Dis. 2018 Dec;27(12):3563-3569. doi: 10.1016/j.jstrokecerebrovasdis.2018.08.025. Epub 2018 Sep 7. J Stroke Cerebrovasc Dis. 2018. PMID: 30201457
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