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Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.
Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio-Yamada K, Yoshioka H, Hamanaka R, Yano S, Yokoyama S, Mannen K, Kulkarni AB, Furukawa K, Ishii S. Shiozuka C, et al. Among authors: taguchi a. J Biochem. 2011 Feb;149(2):161-70. doi: 10.1093/jb/mvq125. Epub 2010 Oct 19. J Biochem. 2011. PMID: 20961863 Free PMC article.
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S. Maruyama H, et al. Among authors: taguchi a. Genet Med. 2019 Jan;21(1):44-52. doi: 10.1038/gim.2018.31. Epub 2018 Mar 15. Genet Med. 2019. PMID: 29543226 Free PMC article.
Medullary thick ascending limb impairment in the GlatmTg(CAG-A4GALT) Fabry model mice.
Maruyama H, Taguchi A, Nishikawa Y, Guili C, Mikame M, Nameta M, Yamaguchi Y, Ueno M, Imai N, Ito Y, Nakagawa T, Narita I, Ishii S. Maruyama H, et al. Among authors: taguchi a. FASEB J. 2018 Aug;32(8):4544-4559. doi: 10.1096/fj.201701374R. Epub 2018 Mar 19. FASEB J. 2018. PMID: 29553830 Free PMC article.
A main feature of Fabry disease is nephropathy, with polyuria an early manifestation; however, the mechanism that underlies polyuria and affected tubules is unknown. ...Results demonstrate that mTAL dysfunction causes polyuria and renal impairment and contributes to the pa …
A main feature of Fabry disease is nephropathy, with polyuria an early manifestation; however, the mechanism that underlies polyuria …
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S. Maruyama H, et al. Among authors: taguchi a. Genet Med. 2019 Feb;21(2):512-515. doi: 10.1038/s41436-018-0125-2. Genet Med. 2019. PMID: 30190610 Free PMC article.
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S. Maruyama H, et al. Among authors: taguchi a. Genet Med. 2019 Aug;21(8):1900. doi: 10.1038/s41436-018-0258-3. Genet Med. 2019. PMID: 30209272 Free PMC article.
Correction: Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, Murayama K, Inoue T, Yamamoto S, Sugimura K, Tamita K, Kawasaki T, Kajihara J, Onishi A, Sugiyama H, Sakai T, Murata I, Oda T, Toyoda S, Hanawa K, Fujimura T, Ura S, Matsumura M, Takano H, Yamashita S, Matsukura G, Tazawa R, Shiga T, Ebato M, Satoh H, Ishii S. Maruyama H, et al. Among authors: taguchi a. Genet Med. 2019 May;21(5):1263. doi: 10.1038/s41436-019-0447-8. Genet Med. 2019. PMID: 30728527 Free PMC article.
960 results