Crystallization, X-ray diffraction analysis and SIRAS phasing of human α-l-iduronidase

Por Maita, Nobuo, Taniguchi, Hisaaki, Sakuraba, Hitoshi
Publicado em 2012

Comparative Study of Structural Changes Caused by Different Substitutions at the Same Residue on α-Galactosidase A

Por Saito, Seiji, Ohno, Kazuki, Sakuraba, Hitoshi
Publicado em 2013

Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases

Por Saito, Seiji, Ohno, Kazuki, Okuyama, Torayuki, Sakuraba, Hitoshi
Publicado no PLoS One (2016)

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease

Por Sueoka, Hideaki, Ichihara, Junji, Tsukimura, Takahiro, Togawa, Tadayasu, Sakuraba, Hitoshi
Publicado no PLoS One (2015)

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease

Por Sueoka, Hideaki, Aoki, Mikio, Tsukimura, Takahiro, Togawa, Tadayasu, Sakuraba, Hitoshi
Publicado no PLoS One (2015)

Introduction of an N-Glycan Sequon Into HEXA Enhances Human β-Hexosaminidase Cellular Uptake in a Model of Sandhoff Disease

Por Matsuoka, Kazuhiko, Tsuji, Daisuke, Aikawa, Sei-ichi, Matsuzawa, Fumiko, Sakuraba, Hitoshi, Itoh, Kohji
Publicado em 2010

Human α-l-iduronidase uses its own N-glycan as a substrate-binding and catalytic module

Por Maita, Nobuo, Tsukimura, Takahiro, Taniguchi, Takako, Saito, Seiji, Ohno, Kazuki, Taniguchi, Hisaaki, Sakuraba, Hitoshi
Publicado em 2013

Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease

Por Sakuraba, Hitoshi, Tsukimura, Takahiro, Tanaka, Toshie, Togawa, Tadayasu, Takahashi, Naoki, Mikami, Daisuke, Wakai, Sachiko, Akai, Yasuhiro
Publicado no J Nephropathol (2015)

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Por Tsukimura, Takahiro, Nakano, Sachie, Togawa, Tadayasu, Tanaka, Toshie, Saito, Seiji, Ohno, Kazuki, Shibasaki, Futoshi, Sakuraba, Hitoshi
Publicado no Mol Genet Metab Rep (2014)

High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening

Por Spada, Marco, Pagliardini, Severo, Yasuda, Makiko, Tukel, Turgut, Thiagarajan, Geetha, Sakuraba, Hitoshi, Ponzone, Alberto, Desnick, Robert J.
Publicado em 2006

Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis

Por Matsuoka, Kazuhiko, Tamura, Tomomi, Tsuji, Daisuke, Dohzono, Yukie, Kitakaze, Keisuke, Ohno, Kazuki, Saito, Seiji, Sakuraba, Hitoshi, Itoh, Kohji
Publicado em 2011

Impaired Neural Differentiation of Induced Pluripotent Stem Cells Generated from a Mouse Model of Sandhoff Disease

Por Ogawa, Yasuhiro, Tanaka, Makoto, Tanabe, Miho, Suzuki, Toshihiro, Togawa, Tadayasu, Fukushige, Tomoko, Kanekura, Takuro, Sakuraba, Hitoshi, Oishi, Kazuhiko
Publicado em 2013

Development of a Highly Sensitive Immuno-PCR Assay for the Measurement of α-Galactosidase A Protein Levels in Serum and Plasma

Por Nakano, Sachie, Morizane, Yoshihito, Makisaka, Noriko, Suzuki, Toshihiro, Togawa, Tadayasu, Tsukimura, Takahiro, Kawashima, Ikuo, Sakuraba, Hitoshi, Shibasaki, Futoshi
Publicado em 2013

Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer

Por Takahashi, Hiroshi, Hirai, Yukihiko, Migita, Makoto, Seino, Yoshihiko, Fukuda, Yuh, Sakuraba, Hitoshi, Kase, Ryoichi, Kobayashi, Toshihide, Hashimoto, Yasuhiro, Shimada, Takashi
Publicado em 2002

Distal Myopathy with Rimmed Vacuoles : Impaired O-Glycan Formation in Muscular Glycoproteins

Por Tajima, Youichi, Uyama, Eiichiro, Go, Shinji, Sato, Chihiro, Tao, Nodoka, Kotani, Masaharu, Hino, Hirotake, Suzuki, Akemi, Sanai¶, Yutaka, Kitajima, Ken, Sakuraba, Hitoshi
Publicado em 2005

Efficient Uptake of Recombinant α-Galactosidase A Produced with a Gene-Manipulated Yeast by Fabry Mice Kidneys

Por Tsukimura, Takahiro, Kawashima, Ikuo, Togawa, Tadayasu, Kodama, Takashi, Suzuki, Toshihiro, Watanabe, Toru, Chiba, Yasunori, Jigami, Yoshifumi, Fukushige, Tomoko, Kanekura, Takuro, Sakuraba, Hitoshi
Publicado em 2011

Production of Recombinant β-Hexosaminidase A, a Potential Enzyme for Replacement Therapy for Tay-Sachs and Sandhoff Diseases, in the Methylotrophic Yeast Ogataea minuta

Por Akeboshi, Hiromi, Chiba, Yasunori, Kasahara, Yoshiko, Takashiba, Minako, Takaoka, Yuki, Ohsawa, Mai, Tajima, Youichi, Kawashima, Ikuo, Tsuji, Daisuke, Itoh, Kohji, Sakuraba, Hitoshi, Jigami, Yoshifumi
Publicado em 2007

Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease

Por Kodama, Takashi, Togawa, Tadayasu, Tsukimura, Takahiro, Kawashima, Ikuo, Matsuoka, Kazuhiko, Kitakaze, Keisuke, Tsuji, Daisuke, Itoh, Kohji, Ishida, Yo-ichi, Suzuki, Minoru, Suzuki, Toshihiro, Sakuraba, Hitoshi
Publicado em 2011

Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy

Por Nakano, Sachie, Tsukimura, Takahiro, Togawa, Tadayasu, Ohashi, Toya, Kobayashi, Masahisa, Takayama, Katsuyoshi, Kobayashi, Yukuharu, Abiko, Hiroshi, Satou, Masatsugu, Nakahata, Tohru, Warnock, David G., Sakuraba, Hitoshi, Shibasaki, Futoshi
Publicado no PLoS One (2015)

FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice

Por Ogawa, Yasuhiro, Sano, Takafumi, Irisa, Masahiro, Kodama, Takashi, Saito, Takahiro, Furusawa, Eiri, Kaizu, Katsutoshi, Yanagi, Yusuke, Tsukimura, Takahiro, Togawa, Tadayasu, Yamanaka, Shoji, Itoh, Kohji, Sakuraba, Hitoshi, Oishi, Kazuhiko
Publicado no Sci Rep (2017)