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Hitoshi Sakuraba

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Nobuo Maita; Hisaaki Taniguchi; Hitoshi Sakuraba
Crystallization, X-ray diffraction analysis and SIRAS phasing of human α-L-iduronidase.
Daisuke Tsuji; Hiromi Akeboshi; Kazuhiko Matsuoka; Hiroko Yasuoka; Eri Miyasaki; Yoshiko Kasahara; Ikuo Kawashima; Yasunori Chiba; Yoshifumi Jigami; Takao Taki; Hitoshi Sakuraba; Kohji Itoh
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis.
Takahiro Tsukimura; Youichi Tajima; Ikuo Kawashima; Tomoko Fukushige; Tamotsu Kanzaki; Takuro Kanekura; Masahiko Ikekita; Kanako Sugawara; Toshihiro Suzuki; Tadayasu Togawa; Hitoshi Sakuraba
Uptake of a recombinant human alpha-L-iduronidase (laronidase) by cultured fibroblasts and osteoblasts.

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2012: Nobuo Maita; Hisaaki Taniguchi; Hitoshi Sakuraba
Crystallization, X-ray diffraction analysis and SIRAS phasing of human α-L-iduronidase.
Acta crystallographica. Section F, Structural biology and crystallization communications 2012;68(Pt 11):1363-6.
2011: Daisuke Tsuji; Hiromi Akeboshi; Kazuhiko Matsuoka; Hiroko Yasuoka; Eri Miyasaki; Yoshiko Kasahara; Ikuo Kawashima; Yasunori Chiba; Yoshifumi Jigami; Takao Taki; Hitoshi Sakuraba; Kohji Itoh
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis.
Annals of neurology 2011;69(4):691-701.
2008: Takahiro Tsukimura; Youichi Tajima; Ikuo Kawashima; Tomoko Fukushige; Tamotsu Kanzaki; Takuro Kanekura; Masahiko Ikekita; Kanako Sugawara; Toshihiro Suzuki; Tadayasu Togawa; Hitoshi Sakuraba
Uptake of a recombinant human alpha-L-iduronidase (laronidase) by cultured fibroblasts and osteoblasts.
Biological & pharmaceutical bulletin 2008;31(9):1691-5.
2008: Yutaka Tatano; Reiko Fujinawa; Yasunori Kozutsumi; Tsutomu Takahashi; Daisuke Tsuji; Naohiro Takeuchi; Koji Tsuta; Goro Takada; Hitoshi Sakuraba; Kohji Itoh
Tropoelastin regulates chemokine expression in fibroblasts in Costello syndrome.
Biochemical and biophysical research communications 2008;372(4):681-7.
2008: Michiru Yoshimizu; Youichi Tajima; Fumiko Matsuzawa; Sei-ichi Aikawa; Kunihiko Iwamoto; Toshihide Kobayashi; Tim Edmunds; Kaori Fujishima; Daisuke Tsuji; Kohji Itoh; Masahiko Ikekita; Ikuo Kawashima; Kanako Sugawara; Naho Ohyanagi; Toshihiro Suzuki; Tadayasu Togawa; Kazuki Ohno; Hitoshi Sakuraba
Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid alpha-glucosidase (alglucosidase alfa): insight into the complex formation mechanism.
Clinica chimica acta; international journal of clinical chemistry 2008;391(1-2):68-73.
2008: Hitoshi Sakuraba; Kazunari Yoneda; Issaku Asai; Hideaki Tsuge; Nobuhiko Katunuma; Toshihisa Ohshima
Structure of l-aspartate oxidase from the hyperthermophilic archaeon Sulfolobus tokodaii.
Biochimica et biophysica acta 2008;1784(3):563-71.
2008: Yasuhiro Shimizu; Hitoshi Sakuraba; Katsumi Doi; Toshihisa Ohshima
Molecular and functional characterization of D-3-phosphoglycerate dehydrogenase in the serine biosynthetic pathway of the hyperthermophilic archaeon Sulfolobus tokodaii.
Archives of biochemistry and biophysics 2008;470(2):120-8.
2007: Hitoshi Sakuraba; Kazunari Yoneda; Kumiko Yoshihara; Kyoko Satoh; Ryushi Kawakami; Yoshihiro Uto; Hideaki Tsuge; Katsuyuki Takahashi; Hitoshi Hori; Toshihisa Ohshima
Sequential aldol condensation catalyzed by hyperthermophilic 2-deoxy-d-ribose-5-phosphate aldolase.
Applied and environmental microbiology 2007;73(22):7427-34.
2007: Kazunari Yoneda; Hitoshi Sakuraba; Hideaki Tsuge; Nobuhiko Katunuma; Toshihisa Ohshima
Crystal structure of archaeal highly thermostable L-aspartate dehydrogenase/NAD/citrate ternary complex.
The FEBS journal 2007;274(16):4315-25.
2007: Hiromi Akeboshi; Yasunori Chiba; Yoshiko Kasahara; Minako Takashiba; Yuki Takaoka; Mai Ohsawa; Youichi Tajima; Ikuo Kawashima; Daisuke Tsuji; Kohji Itoh; Hitoshi Sakuraba; Yoshifumi Jigami
Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta.
Applied and environmental microbiology 2007;73(15):4805-12.
2007: Ryushi Kawakami; Hitoshi Sakuraba; Toshihisa Ohshima
Gene cloning and characterization of the very large NAD-dependent l-glutamate dehydrogenase from the psychrophile Janthinobacterium lividum, isolated from cold soil.
Journal of bacteriology 2007;189(15):5626-33.
2007: Toshihisa Ohshima; Ryushi Kawakami; Yuichiro Kanai; Shuichiro Goda; Hitoshi Sakuraba
Gene expression and characterization of 2-keto-3-deoxygluconate kinase, a key enzyme in the modified Entner-Doudoroff pathway of the aerobic and acidophilic hyperthermophile Sulfolobus tokodaii.
Protein expression and purification 2007;54(1):73-8.
2007: Ikuo Kawashima; Mai Ohsawa; Tomoko Fukushige; Yoshihisa Nagayama; Yo Niida; Masaharu Kotani; Youichi Tajima; Takuro Kanekura; Tamotsu Kanzaki; Hitoshi Sakuraba
Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease.
Clinica chimica acta; international journal of clinical chemistry 2007;378(1-2):142-6.
2007: Daisuke Tsuji; Yukari Higashine; Kazuhiko Matsuoka; Hitoshi Sakuraba; Kohji Itoh
Therapeutic evaluation of GM2 gangliosidoses by ELISA using anti-GM2 ganglioside antibodies.
Clinica chimica acta; international journal of clinical chemistry 2007;378(1-2):38-41.
2007: Masaharu Kotani; Shiki Okamoto; Masato Imada; Kouichi Itoh; Atsushi Irie; Hitoshi Sakuraba; Hideo Kubo
Flow cytometric analysis of mouse neurospheres based on the expression level of RANDAM-2.
Neuroscience letters 2007;413(1):25-30.
2007: Ikuo Kawashima; Kazuhiko Watabe; Youichi Tajima; Tomoko Fukushige; Tamotsu Kanzaki; Takuro Kanekura; Kanako Sugawara; Naho Ohyanagi; Toshihiro Suzuki; Tadayasu Togawa; Hitoshi Sakuraba
Establishment of immortalized Schwann cells from Fabry mice and their low uptake of recombinant alpha-galactosidase.
Journal of human genetics 2007;52(12):1018-25.
2007: Youichi Tajima; Fumiko Matsuzawa; Sei-ichi Aikawa; Toshika Okumiya; Michiru Yoshimizu; Takahiro Tsukimura; Masahiko Ikekita; Seiichi Tsujino; Akihiko Tsuji; Tim Edmunds; Hitoshi Sakuraba
Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase".
Journal of human genetics 2007;52(11):898-906.
2006: Ikuo Kawashima; Ichiro Takeuchi; Mai Ohsawa; Masaharu Kotani; Youichi Tajima; Takayuki Inomata; Tohru Izumi; Hitoshi Sakuraba
Phospholipid storage in the myocardium of a unique Japanese case of idiopathic cardiomyopathy.
Clinica chimica acta; international journal of clinical chemistry 2006;372(1-2):154-7.
2006: Hitoshi Sakuraba; Makoto Sawada; Fumiko Matsuzawa; Sei-ichi Aikawa; Yasunori Chiba; Yoshifumi Jigami; Kohji Itoh
Molecular pathologies of and enzyme replacement therapies for lysosomal diseases.
CNS & neurological disorders drug targets 2006;5(4):401-13.
2006: Tomohiro Itakura; Aya Kuroki; Yasuhiro Ishibashi; Daisuke Tsuji; Eri Kawashita; Yukari Higashine; Hitoshi Sakuraba; Shoji Yamanaka; Kohji Itoh
Inefficiency in GM2 ganglioside elimination by human lysosomal beta-hexosaminidase beta-subunit gene transfer to fibroblastic cell line derived from Sandhoff disease model mice.
Biological & pharmaceutical bulletin 2006;29(8):1564-9.
2006: Yutaka Tatano; Tsutomu Takahashi; Daisuke Tsuji; Naohiro Takeuchi; Koji Tsuta; Goro Takada; Mai Ohsawa; Hitoshi Sakuraba; Kohji Itoh
Significant decrease in tropoelastin gene expression in fibroblasts from a Japanese Costello syndrome patient with impaired elastogenesis and enhanced proliferation.
Journal of biochemistry 2006;140(2):193-200.
2006: Kazunari Yoneda; Ryushi Kawakami; Yuya Tagashira; Hitoshi Sakuraba; Shuichiro Goda; Toshihisa Ohshima
The first archaeal L-aspartate dehydrogenase from the hyperthermophile Archaeoglobus fulgidus: gene cloning and enzymological characterization.
Biochimica et biophysica acta 2006;1764(6):1087-93.
2006: Yukako Oheda; Masaharu Kotani; Mai Murata; Hitoshi Sakuraba; Yoshito Kadota; Yutaka Tatano; Jun Kuwahara; Kohji Itoh
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement.
Glycobiology 2006;16(4):271-80.
2006: Yutaka Tatano; Naohiro Takeuchi; Jun Kuwahara; Hitoshi Sakuraba; Tsutomu Takahashi; Goro Takada; Kohji Itoh
Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
The journal of medical investigation : JMI 2006;53(1-2):103-12.
2006: Hitoshi Sakuraba; Yasunori Chiba; Masaharu Kotani; Ikuo Kawashima; Mai Ohsawa; Youichi Tajima; Yuki Takaoka; Yoshifumi Jigami; Hiroshi Takahashi; Yukihiko Hirai; Takashi Shimada; Yasuhiro Hashimoto; Kumiko Ishii; Toshihide Kobayashi; Kazuhiko Watabe; Tomoko Fukushige; Tamotsu Kanzaki
Corrective effect on Fabry mice of yeast recombinant human alpha-galactosidase with N-linked sugar chains suitable for lysosomal delivery.
Journal of human genetics 2006;51(4):341-52.
2006: Hideaki Tsuge; Kenji Aki; Nobuhiko Katanuma; Ryushi Kawakami; Hitoshi Sakuraba; Toshihisa Ohshima
[Novel diflavin-containing dehydrogenase family: FAD, FMN and ATP-containing L-proline dehydrogenase].
Seikagaku. The Journal of Japanese Biochemical Society 2006;78(1):41-5.
2006: Hitoshi Sakuraba; Mai Murata-Ohsawa; Ikuo Kawashima; Youichi Tajima; Masaharu Kotani; Toshio Ohshima; Yasunori Chiba; Minako Takashiba; Yoshifumi Jigami; Tomoko Fukushige; Tamotsu Kanzaki; Kohji Itoh
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.
Journal of human genetics 2006;51(3):180-8.
2005: Shin-ichiro Inagaki; Makoto Migita; Mari Hayakawa; Atushi Fujita; Junko Yoshida; Masamichi Ishizaki; Masaharu Kotani; Hitoshi Sakuraba; Takashi Shimada; Mutsumi Murakami; Yoshitaka Fukunaga
An asymptomatic heterozygous female with fabry disease: implications for enzyme replacement therapy.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshi 2005;72(6):387-90.
2005: Shuichiro Goda; Masaki Kojima; Yoshimi Nishikawa; Chizu Kujo; Ryushi Kawakami; Seiki Kuramitsu; Hitoshi Sakuraba; Yuzuru Hiragi; Toshihisa Ohshima
Intersubunit interaction induced by subunit rearrangement is essential for the catalytic activity of the hyperthermophilic glutamate dehydrogenase from Pyrobaculum islandicum.
Biochemistry 2005;44(46):15304-13.
2005: Hideaki Tsuge; Ryushi Kawakami; Hitoshi Sakuraba; Hideo Ago; Masashi Miyano; Kenji Aki; Nobuhiko Katunuma; Toshihisa Ohshima
Crystal structure of a novel FAD-, FMN-, and ATP-containing L-proline dehydrogenase complex from Pyrococcus horikoshii.
The Journal of biological chemistry 2005;280(35):31045-9.
2005: Takuro Kanekura; Tomoko Fukushige; Akira Kanda; Shinichiro Tsuyama; Fusayoshi Murata; Hitoshi Sakuraba; Tamotsu Kanzaki
Immunoelectron-microscopic detection of globotriaosylceramide accumulated in the skin of patients with Fabry disease.
The British journal of dermatology 2005;153(3):544-8.
2005: Ryushi Kawakami; Hitoshi Sakuraba; Hideaki Tsuge; Shuichiro Goda; Nobuhiko Katunuma; Toshihisa Ohshima
A second novel dye-linked L-proline dehydrogenase complex is present in the hyperthermophilic archaeon Pyrococcus horikoshii OT-3.
The FEBS journal 2005;272(16):4044-54.
2005: Hitoshi Sakuraba; Ryushi Kawakami; Toshihisa Ohshima
First archaeal inorganic polyphosphate/ATP-dependent NAD kinase, from hyperthermophilic archaeon Pyrococcus horikoshii: cloning, expression, and characterization.
Applied and environmental microbiology 2005;71(8):4352-8.
2005: Fumiko Matsuzawa; Sei-ichi Aikawa; Hirofumi Doi; Toshika Okumiya; Hitoshi Sakuraba
Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.
Human genetics 2005;117(4):317-28.
2005: Yasuhiro Shimizu; Hitoshi Sakuraba; Ryushi Kawakami; Shuichiro Goda; Yutaka Kawarabayasi; Toshihisa Ohshima
L-Threonine dehydrogenase from the hyperthermophilic archaeon Pyrococcus horikoshii OT3: gene cloning and enzymatic characterization.
Extremophiles : life under extreme conditions 2005;9(4):317-24.
2005: Hitoshi Sakuraba; Hideaki Tsuge; Kazunari Yoneda; Nobuhiko Katunuma; Toshihisa Ohshima
Crystal structure of the NAD biosynthetic enzyme quinolinate synthase.
The Journal of biological chemistry 2005;280(29):26645-8.
2005: Kazunari Yoneda; Hitoshi Sakuraba; Hideaki Tsuge; Nobuhiko Katunuma; Seiki Kuramitsu; Takeshi Kawabata; Toshihisa Ohshima
The first crystal structure of an archaeal helical repeat protein.
Acta crystallographica. Section F, Structural biology and crystallization communications 2005;61(Pt 7):636-9.
2005: Shuichiro Goda; Hitoshi Sakuraba; Yutaka Kawarabayasi; Toshihisa Ohshima
The first archaeal agmatinase from anaerobic hyperthermophilic archaeon Pyrococcus horikoshii: cloning, expression, and characterization.
Biochimica et biophysica acta 2005;1748(1):110-5.
2005: Youichi Tajima; Eiichiro Uyama; Shinji Go; Chihiro Sato; Nodoka Tao; Masaharu Kotani; Hirotake Hino; Akemi Suzuki; Yutaka Sanai; Ken Kitajima; Hitoshi Sakuraba
Distal myopathy with rimmed vacuoles: impaired O-glycan formation in muscular glycoproteins.
The American journal of pathology 2005;166(4):1121-30.
2005: Mohammad W Bhuiya; Hitoshi Sakuraba; Toshihisa Ohshima; Takahito Imagawa; Nobuhiko Katunuma; Hideaki Tsuge
The first crystal structure of hyperthermostable NAD-dependent glutamate dehydrogenase from Pyrobaculum islandicum.
Journal of molecular biology 2005;345(2):325-37.
2005: Mai Ohsawa; Masaharu Kotani; Youichi Tajima; Daisuke Tsuji; Yasuhiro Ishibashi; Aya Kuroki; Kohji Itoh; Kazuhiko Watabe; Kazunori Sango; Shoji Yamanaka; Hitoshi Sakuraba
Establishment of immortalized Schwann cells from Sandhoff mice and corrective effect of recombinant human beta-hexosaminidase A on the accumulated GM2 ganglioside.
Journal of human genetics 2005;50(9):460-7.
2005: Takuro Kanekura; Hitoshi Sakuraba; Fumiko Matsuzawa; Sei-ichi Aikawa; Hirofumi Doi; Yoshio Hirabayashi; Noriko Yoshii; Tomoko Fukushige; Tamotsu Kanzaki
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.
Journal of dermatological science 2005;37(1):15-20.
2004: Hitoshi Sakuraba; Kohji Itoh
[Lysosomal neuraminidase (neuraminidase-1)].
Nihon rinsho. Japanese journal of clinical medicine 2004;62 Suppl 11():517-20.
2004: Takahito Imagawa; Hitoshi Nakayama; Nobuhiko Katunuma; Hitoshi Sakuraba; Toshihisa Ohshima; Takashi Itoh; Yoshihiko Sako; Norimichi Nomura; Hideaki Tsuge
Crystallization and preliminary X-ray diffraction analysis of homing endonuclease I-Tsp061I.
Acta crystallographica. Section D, Biological crystallography 2004;60(Pt 11):2006-8.
2004: Ryushi Kawakami; Hitoshi Sakuraba; Shintaro Kamohara; Shuichiro Goda; Yutaka Kawarabayasi; Toshihisa Ohshima
Oxidative stress response in an anaerobic hyperthermophilic archaeon: presence of a functional peroxiredoxin in Pyrococcus horikoshii.
Journal of biochemistry 2004;136(4):541-7.
2004: Hitoshi Sakuraba; Ryushi Kawakami; Hajime Takahashi; Toshihisa Ohshima
Novel archaeal alanine:glyoxylate aminotransferase from Thermococcus litoralis.
Journal of bacteriology 2004;186(16):5513-8.
2004: Masaharu Kotani; Hideo Yamada; Hitoshi Sakuraba
Cytochemical and biochemical detection of intracellularly accumulated sialyl glycoconjugates in sialidosis and galactosialidosis fibroblasts with Macckia amurensis.
Clinica chimica acta; international journal of clinical chemistry 2004;344(1-2):131-5.
2004: Yurie Satoh; Yoshito Kadota; Yukako Oheda; Jun Kuwahara; Sei-ichi Aikawa; Fumiko Matsuzawa; Hirofumi Doi; Takaaki Aoyagi; Hitoshi Sakuraba; Kohji Itoh
Microbial serine carboxypeptidase inhibitors--comparative analysis of actions on homologous enzymes derived from man, yeast and wheat.
The Journal of antibiotics 2004;57(5):316-25.
2004: Kohji Itoh; Yurie Satoh; Yoshito Kadota; Yukako Oheda; Jun Kuwahara; Michie Shimmoto; Hitoshi Sakuraba
Expression of lysosomal protective protein/cathepsin A in a stably transformed human neuroblastoma cell line during bi-directional differentiation into neuronal and Schwannian cells.
Neurochemistry international 2004;44(6):447-57.
2004: Ryushi Kawakami; Hitoshi Sakuraba; Toshihisa Ohshima
Gene and primary structures of dye-linked L-proline dehydrogenase from the hyperthermophilic archaeon Thermococcus profundus show the presence of a novel heterotetrameric amino acid dehydrogenase complex.
Extremophiles : life under extreme conditions 2004;8(2):99-108.
2004: Mohammad W Bhuiya; Hitoshi Sakuraba; Kazunari Yoneda; Toshihisa Ohshima; Takahito Imagawa; Nobuhiko Katunuma; Hideaki Tsuge
Crystallization and preliminary X-ray diffraction analysis of the hyperthermostable NAD-dependent glutamate dehydrogenase from Pyrobaculum islandicum.
Acta crystallographica. Section D, Biological crystallography 2004;60(Pt 4):715-7.
2004: Mojgan Heydari; Toshihisa Ohshima; Naoki Nunoura-Kominato; Hitoshi Sakuraba
Highly stable L-lysine 6-dehydrogenase from the thermophile Geobacillus stearothermophilus isolated from a Japanese hot spring: characterization, gene cloning and sequencing, and expression.
Applied and environmental microbiology 2004;70(2):937-42.
2004: Hitoshi Sakuraba; Shuichiro Goda; Toshihisa Ohshima
Unique sugar metabolism and novel enzymes of hyperthermophilic archaea.
Chemical record (New York, N.Y.) 2004;3(5):281-7.
2004: Hitoshi Sakuraba; Fumiko Matsuzawa; Sei-ichi Aikawa; Hirofumi Doi; Masaharu Kotani; Hiroshi Nakada; Tomoko Fukushige; Tamotsu Kanzaki
Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
Journal of human genetics 2004;49(1):1-8.
2003: Masaharu Kotani; Youichi Tajima; Taka Osanai; Atsushi Irie; Ken Iwatsuki; Masami Kanai-Azuma; Masato Imada; Hiroko Kato; Hiroshi Shitara; Hideo Kubo; Hitoshi Sakuraba
Complementary DNA cloning and characterization of RANDAM-2, a type I membrane molecule specifically expressed on glutamatergic neuronal cells in the mouse cerebrum.
Journal of neuroscience research 2003;73(5):603-13.
2003: Hitoshi Sakuraba; Hideaki Tsuge; Ikuko Shimoya; Ryushi Kawakami; Shuichiro Goda; Yutaka Kawarabayasi; Nobuhiko Katunuma; Hideo Ago; Masashi Miyano; Toshihisa Ohshima
The first crystal structure of archaeal aldolase. Unique tetrameric structure of 2-deoxy-d-ribose-5-phosphate aldolase from the hyperthermophilic archaea Aeropyrum pernix.
The Journal of biological chemistry 2003;278(12):10799-806.
2003: Hitoshi Sakuraba; Yuri Mitani; Shuichiro Goda; Yutaka Kawarabayasi; Toshihisa Ohshima
Cloning, expression, and characterization of the first archaeal ATP-dependent glucokinase from aerobic hyperthermophilic archaeon Aeropyrum pernix.
Journal of biochemistry 2003;133(2):219-24.
2003: Fumiko Matsuzawa; Sei-ichi Aikawa; Hitoshi Sakuraba; Hoang Thi Ngoc Lan; Akemi Tanaka; Kousaku Ohno; Yuko Sugimoto; Haruaki Ninomiya; Hirofumi Doi
Structural basis of the GM2 gangliosidosis B variant.
Journal of human genetics 2003;48(11):582-9.
2003: Hitoshi Sakuraba
[Lysosomal disease].
Ryōikibetsu shōkōgun shirīzu 2003;(39):470-5.
2003: Toshika Okumiya; Hitoshi Sakuraba; Ryoichi Kase; Tetsuro Sugiura
Imbalanced substrate specificity of mutant beta-galactosidase in patients with Morquio B disease.
Molecular genetics and metabolism 2003;78(1):51-8.
2002: Hiroshi Takahashi; Yukihiko Hirai; Makoto Migita; Yoshihiko Seino; Yuh Fukuda; Hitoshi Sakuraba; Ryoichi Kase; Toshihide Kobayashi; Yasuhiro Hashimoto; Takashi Shimada
Long-term systemic therapy of Fabry disease in a knockout mouse by adeno-associated virus-mediated muscle-directed gene transfer.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(21):13777-82.
2002: Hideaki Tsuge; Hitoshi Sakuraba; Toru Kobe; Akira Kujime; Nobuhiko Katunuma; Toshihisa Ohshima
Crystal structure of the ADP-dependent glucokinase from Pyrococcus horikoshii at 2.0-A resolution: a large conformational change in ADP-dependent glucokinase.
Protein science : a publication of the Protein Society 2002;11(10):2456-63.
2002: Hitoshi Sakuraba; Takenori Satomura; Ryushi Kawakami; Sanae Yamamoto; Yutaka Kawarabayasi; Hisasi Kikuchi; Toshihisa Ohshima
L-aspartate oxidase is present in the anaerobic hyperthermophilic archaeon Pyrococcus horikoshii OT-3: characteristics and role in the de novo biosynthesis of nicotinamide adenine dinucleotide proposed by genome sequencing.
Extremophiles : life under extreme conditions 2002;6(4):275-81.
2002: Mohammad W Bhuiya; Hideaki Tsuge; Hitoshi Sakuraba; Kazunari Yoneda; Nobuhiko Katunuma; Toshihisa Ohshima
Crystallization and preliminary X-ray diffraction analysis of glutamate dehydrogenase from an aerobic hyperthermophilic archaeon, Aeropyrum pernix K1.
Acta crystallographica. Section D, Biological crystallography 2002;58(Pt 8):1338-9.
2002: Kouichi Utsumi; A Tsuji; Ryoichi Kase; A Tanaka; T Tanaka; Eiichiro Uyama; T Ozawa; Hitoshi Sakuraba; Yuichi Komaba; M Kawabe; Y Iino; Yasuo Katayama
Western blotting analysis of the beta-hexosaminidase alpha- and beta-subunits in cultured fibroblasts from cases of various forms of GM2 gangliosidosis.
Acta neurologica Scandinavica 2002;105(6):427-30.
2002: Hitoshi Sakuraba; Issei Yoshioka; Shinji Koga; Mamoru Takahashi; Yuki Kitahama; Takenori Satomura; Ryushi Kawakami; Toshihisa Ohshima
ADP-dependent glucokinase/phosphofructokinase, a novel bifunctional enzyme from the hyperthermophilic archaeon Methanococcus jannaschii.
The Journal of biological chemistry 2002;277(15):12495-8.
2002: Takenori Satomura; Ryushi Kawakami; Hitoshi Sakuraba; Toshihisa Ohshima
Dye-linked D-proline dehydrogenase from hyperthermophilic archaeon Pyrobaculum islandicum is a novel FAD-dependent amino acid dehydrogenase.
The Journal of biological chemistry 2002;277(15):12861-7.
2002: Mohammad W Bhuiya; Hitoshi Sakuraba; Toshihisa Ohshima
Temperature dependence of kinetic parameters for hyperthermophilic glutamate dehydrogenase from Aeropyrum pernix K1.
Bioscience, biotechnology, and biochemistry 2002;66(4):873-6.
2002: Masaharu Kotani; Taka Osanai; Youichi Tajima; Hiroko Kato; Masato Imada; Hideki Kaneda; Hideo Kubo; Hitoshi Sakuraba
Identification of neuronal cell lineage-specific molecules in the neuronal differentiation of P19 EC cells and mouse central nervous system.
Journal of neuroscience research 2002;67(5):595-606.
2002: Hitoshi Sakuraba; Toshihisa Ohshima
Novel energy metabolism in anaerobic hyperthermophilic archaea: a modified Embden-Meyerhof pathway.
Journal of bioscience and bioengineering 2002;93(5):441-8.
2002: Hitoshi Sakuraba; Fumiko Matsuzawa; Sei-ichi Aikawa; Hirofumi Doi; Masaharu Kotani; Hou Lin; Kousaku Ohno; Akemi Tanaka; Hideo Yamada; Ei-ichiro Uyama
Molecular and structural studies of the GM2 gangliosidosis 0 variant.
Journal of human genetics 2002;47(4):176-83.
2002: Kohji Itoh; Yasunori Naganawa; Fumiko Matsuzawa; Sei-ichi Aikawa; Hirofumi Doi; Naokazu Sasagasako; Takeshi Yamada; Jun-ichi Kira; Takuro Kobayashi; Alexey V Pshezhetsky; Hitoshi Sakuraba
Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.
Journal of human genetics 2002;47(1):29-37.
2001: Toshihisa Ohshima; Naoki Nunoura-Kominato; T Kudome; Hitoshi Sakuraba
A novel hyperthermophilic archaeal glyoxylate reductase from Thermococcus litoralis. Characterization, gene cloning, nucleotide sequence and expression in Escherichia coli.
European journal of biochemistry / FEBS 2001;268(17):4740-7.
2001: Hitoshi Sakuraba; Y Takamatsu; Takenori Satomura; Ryushi Kawakami; Toshihisa Ohshima
Purification, characterization, and application of a novel dye-linked L-proline dehydrogenase from a hyperthermophilic archaeon, Thermococcus profundus.
Applied and environmental microbiology 2001;67(4):1470-5.
2001: Toshika Okumiya; Tetsuro Sugiura; Hitoshi Sakuraba
[Fabry disease].
Nihon rinsho. Japanese journal of clinical medicine 2001;59 Suppl 3():313-6.
2001: Hitoshi Sakuraba; E Utsumi; H J Schreier; Toshihisa Ohshima
Transcriptional regulation of phosphoenolpyruvate synthase by maltose in the hyperthermophilic archaeon, Pyrococcus furiosus.
Journal of bioscience and bioengineering 2001;92(2):108-13.
2001: Hitoshi Sakuraba
[Schindler-disease/Kanzaki disease].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):608-10.
2001: Hitoshi Sakuraba
[Niemann-Pick disease (A, B, C)].
Ryōikibetsu shōkōgun shirīzu 2001;(34 Pt 2):315-7.
2001: Hitoshi Sakuraba
[Gaucher disease].
Ryōikibetsu shōkōgun shirīzu 2001;(33):741-2.
2001: Hitoshi Sakuraba
[Fabry disease].
Ryōikibetsu shōkōgun shirīzu 2001;(33):661-2.
2000: Mohammad W Bhuiya; Hitoshi Sakuraba; Chizu Kujo; Naoki Nunoura-Kominato; Yutaka Kawarabayasi; H Kikuchi; Toshihisa Ohshima
Glutamate dehydrogenase from the aerobic hyperthermophilic archaeon Aeropyrum pernix K1: enzymatic characterization, identification of the encoding gene, and phylogenetic implications.
Extremophiles : life under extreme conditions 2000;4(6):333-41.
2000: Ryoichi Kase; U Bierfreund; A Klein; Thomas Kolter; Kouichi Utsumi; K Itoha; Konrad Sandhoff; Hitoshi Sakuraba
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
Biochimica et biophysica acta 2000;1501(2-3):227-35.
2000: Chizu Kujo; Hitoshi Sakuraba; Toshihisa Ohshima
[Simple cultivation method for anaerobic hyperthermophiles].
Seikagaku. The Journal of Japanese Biochemical Society 2000;72(3):203-6.
2000: Yasunori Naganawa; Kohji Itoh; Michie Shimmoto; K Takiguchi; Hirofumi Doi; Y Nishizawa; T Kobayashi; S Kamei; KE Lukong; Alexey V Pshezhetsky; Hitoshi Sakuraba
Molecular and structural studies of Japanese patients with sialidosis type 1.
Journal of human genetics 2000;45(4):241-9.
2000: K Takiguchi; Kohji Itoh; Michie Shimmoto; P T Ozand; Hirofumi Doi; Hitoshi Sakuraba
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
Journal of human genetics 2000;45(4):200-6.
2000: Kohji Itoh; K Oyanagi; H Takahashi; T Sato; Y Hashizume; Michie Shimmoto; Hitoshi Sakuraba
Endothelin-1 in the brain of patients with galactosialidosis: its abnormal increase and distribution pattern.
Annals of neurology 2000;47(1):122-6.
1999: Chizu Kujo; Hitoshi Sakuraba; N Nunoura; Toshihisa Ohshima
The NAD-dependent glutamate dehydrogenase from the hyperthermophilic archaeon Pyrobaculum islandicum: cloning, sequencing, and expression of the enzyme gene(1).
Biochimica et biophysica acta 1999;1434(2):365-71.
1999: Yasunori Naganawa; Kohji Itoh; Michie Shimmoto; S Kamei; K Takiguchi; Hirofumi Doi; Hitoshi Sakuraba
Stable expression of protective protein/cathepsin A-green fluorescent protein fusion genes in a fibroblastic cell line from a galactosialidosis patient. Model system for revealing the intracellular transport of normal and mutated lysosomal enzymes.
The Biochemical journal 1999;340 ( Pt 2)():467-74.
1999: Hitoshi Sakuraba; E Utsumi; Chizu Kujo; Toshihisa Ohshima
An AMP-dependent (ATP-forming) kinase in the hyperthermophilic archaeon Pyrococcus furiosus: characterization and novel physiological role.
Archives of biochemistry and biophysics 1999;364(1):125-8.
1999: Hitoshi Sakuraba; Kohji Itoh; Michie Shimmoto; Kouichi Utsumi; Ryoichi Kase; Y Hashimoto; T Ozawa; Y Ohwada; G Imataka; M Eguchi; T Furukawa; U Schepers; Konrad Sandhoff
GM2 gangliosidosis AB variant: clinical and biochemical studies of a Japanese patient.
Neurology 1999;52(2):372-7.
1999: Kouichi Utsumi; Kohji Itoh; Ryoichi Kase; Michie Shimmoto; N Yamamoto; Y Katagiri; K Tanoue; Masaharu Kotani; T Ozawa; T Oguchi; Hitoshi Sakuraba
Urinary excretion of the vitronectin receptor (integrin alpha V beta 3) in patients with Fabry disease.
Clinica chimica acta; international journal of clinical chemistry 1999;279(1-2):55-68.
1998: Kohji Itoh; Yasunori Naganawa; S Kamei; Michie Shimmoto; Hitoshi Sakuraba
Stabilizing effect of lysosomal beta-galactosidase on the catalytic activity of protective protein/cathepsin A secreted by human platelets.
Biochemical and biophysical research communications 1998;253(2):228-34.
1998: Kohji Itoh; Michie Shimmoto; Kouichi Utsumi; Nobuyuki Mizoguchi; N Miharu; K Ohama; Hitoshi Sakuraba
Protective protein/cathepsin A loss in cultured cells derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation).
Biochemical and biophysical research communications 1998;247(1):12-7.
1998: S Ishii; Ryoichi Kase; Hitoshi Sakuraba; C Taya; H Yonekawa; Toshika Okumiya; Y Matsuda; K Mannen; M Takeshita; Y Suzuki
Alpha-galactosidase transgenic mouse: heterogeneous gene expression and posttranslational glycosylation in tissues.
Glycoconjugate journal 1998;15(6):591-4.
1998: Ryoichi Kase; Michie Shimmoto; Kohji Itoh; Kouichi Utsumi; Masaharu Kotani; C Taya; H Yonekawa; Hitoshi Sakuraba
Immunohistochemical characterization of transgenic mice highly expressing human lysosomal alpha-galactosidase.
Biochimica et biophysica acta 1998;1406(3):260-6.
1998: A Hara; Eiichiro Uyama; Makoto Uchino; Michie Shimmoto; Kouichi Utsumi; K Itoh; Ryoichi Kase; M Naito; E Sugiyama; Tamotsu Taketomi; Kazuko Sukegawa; Hitoshi Sakuraba
Adult Sandhoff's disease: R505Q and I207V substitutions in the HEXB gene of the first Japanese case.
Journal of the neurological sciences 1998;155(1):86-91.
1998: Kohji Itoh; M Simmoto; Hitoshi Sakuraba
[Galactosialidosis].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):407-10.
1998: Kouichi Utsumi; Hitoshi Sakuraba
[Fabry disease (alpha-galactosidase deficiency)].
Ryōikibetsu shōkōgun shirīzu 1998;(19 Pt 2):367-71.
1998: Toshika Okumiya; O Kawamura; Kohji Itoh; Ryoichi Kase; S Ishii; S Kamei; Hitoshi Sakuraba
Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote.
Human mutation 1998;Suppl 1():S213-6.
1997: Michie Shimmoto; Ryoichi Kase; Kohji Itoh; Kouichi Utsumi; S Ishii; C Taya; H Yonekawa; Hitoshi Sakuraba
Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease.
FEBS letters 1997;417(1):89-91.
1997: Kohji Itoh; N Miharu; K Ohama; Nobuyuki Mizoguchi; Nobuo Sakura; Hitoshi Sakuraba
Fetal diagnosis of galactosialidosis (protective protein/cathepsin A deficiency).
Clinica chimica acta; international journal of clinical chemistry 1997;266(2):75-82.
1997: Hitoshi Sakuraba; K Itoh; Y Kuroki; Ryoichi Kase; Michie Shimmoto; Kouichi Utsumi; H Ozawa; T Tai; A Hara; Eiichiro Uyama
Immunocytochemical detection of accumulated substrates in cultured fibroblasts from patients with the infantile and adult forms of Sandhoff disease.
Clinica chimica acta; international journal of clinical chemistry 1997;265(2):263-6.
1997: H Ozawa; K Yamashita; Hitoshi Sakuraba; K Itoh; Ryoichi Kase; Tadashi Tai
Generation and characterization of mouse monoclonal antibodies specific for N-linked neutral oligosaccharides of glycoproteins.
Archives of biochemistry and biophysics 1997;342(1):48-57.
1997: Kouichi Utsumi; N Yamamoto; Ryoichi Kase; T Takata; Toshika Okumiya; H Saito; T Suzuki; Eiichiro Uyama; Hitoshi Sakuraba
High incidence of thrombosis in Fabry's disease.
Internal medicine (Tokyo, Japan) 1997;36(5):327-9.
1997: N Takiyama; Kohji Itoh; Michie Shimmoto; J Nishimoto; K Inui; Hitoshi Sakuraba; Y Suzuki
Molecular form and subcellular distribution of acid beta-galactosidase in fibroblasts from patients with GM1 gangliosidosis, Morquio B disease and galactosialidosis.
Brain & development 1997;19(2):126-30.
1997: T Takata; Toshika Okumiya; H Hayashibe; Michie Shimmoto; Ryoichi Kase; Kohji Itoh; Kouichi Utsumi; S Kamei; Hitoshi Sakuraba
Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.
Brain & development 1997;19(2):111-6.
1997: Toshika Okumiya; T Takata; M Sasaki; Hitoshi Sakuraba
[alpha-Galactosidase gene mutation and its expression product in Fabry disease (alpha-galactosidase deficiency)].
Rinsho byori. The Japanese journal of clinical pathology 1997;45(2):127-35.
1996: Ryoichi Kase; U Bierfreund; A Klein; T Kolter; Kohji Itoh; M Suzuki; Y Hashimoto; K Sandhoff; Hitoshi Sakuraba
Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system.
FEBS letters 1996;393(1):74-6.
1996: Toshika Okumiya; T Takenaka; S Ishii; Ryoichi Kase; S Kamei; Hitoshi Sakuraba
Two novel mutations in the alpha-galactosidase gene in Japanese classical hemizygotes with Fabry disease.
The Japanese journal of human genetics 1996;41(3):313-21.
1996: Kohji Itoh; T Takenaka; S Nakao; M Setoguchi; H Tanaka; T Suzuki; Hitoshi Sakuraba
Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease.
The American journal of cardiology 1996;78(1):116-7.
1996: T Takenaka; Hitoshi Sakuraba; K Hashimoto; O Fujino; T Fujita; H Tanaka; Y Suzuki
Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy.
Clinical genetics 1996;49(5):255-60.
1996: S Ishii; Ryoichi Kase; Toshika Okumiya; Hitoshi Sakuraba; Y Suzuki
Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum.
Biochemical and biophysical research communications 1996;220(3):812-5.
1996: Michie Shimmoto; Yutaka Nakahori; Ikumi Matsushita; T Shinka; Y Kuroki; Kohji Itoh; Hitoshi Sakuraba
A human protective protein gene partially overlaps the gene encoding phospholipid transfer protein on the complementary strand of DNA.
Biochemical and biophysical research communications 1996;220(3):802-6.
1995: Toshika Okumiya; Hitoshi Sakuraba
[Fabry disease (alpha-galactosidase deficiency)].
Nihon rinsho. Japanese journal of clinical medicine 1995;53(12):2952-9.
1995: Toshika Okumiya; S Ishii; T Takenaka; Ryoichi Kase; S Kamei; Hitoshi Sakuraba; Y Suzuki
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
Biochemical and biophysical research communications 1995;214(3):1219-24.
1995: N Ishii; T Oohira; A Oshima; Hitoshi Sakuraba; F Endo; I Matsuda; K Sukegawa; T Orii; Y Suzuki
Clinical and molecular analysis of a Japanese boy with Morquio B disease.
Clinical genetics 1995;48(2):103-8.
1995: Y Kuroki; Kohji Itoh; Y Nadaoka; T Tanaka; Hitoshi Sakuraba
A novel missense mutation (C522Y) is present in the beta-hexosaminidase beta-subunit gene of a Japanese patient with infantile Sandhoff disease.
Biochemical and biophysical research communications 1995;212(2):564-71.
1995: Toshika Okumiya; S Ishii; Ryoichi Kase; S Kamei; Hitoshi Sakuraba; Y Suzuki
Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins.
Human genetics 1995;95(5):557-61.
1995: S Ishii; Ryoichi Kase; Hitoshi Sakuraba; Y Suzuki
The functional role of glutamine-280 and threonine-282 in human alpha-galactosidase.
Biochimica et biophysica acta 1995;1270(2-3):163-7.
1995: Kohji Itoh; Ryoichi Kase; Michie Shimmoto; A Satake; Hitoshi Sakuraba; Y Suzuki
Protective protein as an endogenous endothelin degradation enzyme in human tissues.
The Journal of biological chemistry 1995;270(2):515-8.
1994: A Satake; Kohji Itoh; Michie Shimmoto; T C Saido; Hitoshi Sakuraba; Y Suzuki
Distribution of lysosomal protective protein in human tissues.
Biochemical and biophysical research communications 1994;205(1):38-43.
1994: N Ishii; A Oshima; Hitoshi Sakuraba; Yukio Fukuyama; Y Suzuki
Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.
Pediatric neurology 1994;10(4):317-9.
1994: Hitoshi Sakuraba
[Molecular genetics of inherited metabolic diseases--its application to the investigation of pathogenesis and the diagnosis of Fabry disease].
Rinsho byori. The Japanese journal of clinical pathology 1994;42(6):628-35.
1994: S Ishii; Ryoichi Kase; Hitoshi Sakuraba; S Fujita; M Sugimoto; K Tomita; T Semba; Y Suzuki
Human alpha-galactosidase gene expression: significance of two peptide regions encoded by exons 1-2 and 6.
Biochimica et biophysica acta 1994;1204(2):265-70.
1994: A Oshima; K Yoshida; Kohji Itoh; Ryoichi Kase; Hitoshi Sakuraba; Y Suzuki
Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
Human genetics 1994;93(2):109-14.
1993: S Ishii; Ryoichi Kase; Hitoshi Sakuraba; Y Suzuki
Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease.
Biochemical and biophysical research communications 1993;197(3):1585-9.
1993: Kohji Itoh; M Kotani; T Tai; H Suzuki; T Utsunomiya; H Inoue; H Yamada; Hitoshi Sakuraba; Y Suzuki
Immunofluorescence imaging diagnosis of Fabry heterozygotes using confocal laser scanning microscopy.
Clinical genetics 1993;44(6):302-6.
1993: Hitoshi Sakuraba; Kohji Itoh; Michie Shimmoto
[Multifunctional protective protein and its genetic deficiency 'galactosialidosis'].
Seikagaku. The Journal of Japanese Biochemical Society 1993;65(7):561-6.
1993: Hitoshi Sakuraba; Kohji Itoh; M Kotani; T Tai; H Yamada; K Kurosawa; Y Kuroki; H Suzuki; T Utsunomiya; H Inoue
Prenatal diagnosis of GM2-gangliosidosis. Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy.
Brain & development 1993;15(4):278-82.
1993: N Takiyama; Kohji Itoh; A Oshima; Hitoshi Sakuraba; Y Suzuki
Characterization of an anti-beta-galactosidase antibody recognizing a precursor but not a mature enzyme in solution.
Biochemical and biophysical research communications 1993;193(2):526-31.
1993: Michie Shimmoto; Y Fukuhara; Kohji Itoh; A Oshima; Hitoshi Sakuraba; Y Suzuki
Protective protein gene mutations in galactosialidosis.
The Journal of clinical investigation 1993;91(6):2393-8.
1993: Hitoshi Sakuraba; S Hori; S Ohtani; S Hanaka; T Abe; Michie Shimmoto; Y Suzuki
A case of Duchenne muscular dystrophy with truncated dystrophin. Significance of a cysteine-rich domain for functional expression of dystrophin protein.
Brain & development 1993;15(3):222-5.
1993: Kohji Itoh; N Takiyama; Ryoichi Kase; K Kondoh; A Sano; A Oshima; Hitoshi Sakuraba; Y Suzuki
Purification and characterization of human lysosomal protective protein expressed in stably transformed Chinese hamster ovary cells.
The Journal of biological chemistry 1993;268(2):1180-6.
1992: K Yoshida; N Yanagisawa; A Oshima; Hitoshi Sakuraba; Y Iida; Y Suzuki
Splicing defect of the glycoasparaginase gene in two Japanese siblings with apartylglucosaminuria.
Human genetics 1992;90(1-2):179-80.
1992: A Oshima; K Yoshida; A Ishizaki; Michie Shimmoto; Y Fukuhara; Hitoshi Sakuraba; Y Suzuki
GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.
Clinical genetics 1992;41(5):235-8.
1992: S Ishii; Hitoshi Sakuraba; Y Suzuki
Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.
Human genetics 1992;89(1):29-32.
1992: K Ishii; Hitoshi Sakuraba; R Minamikawa-Tachino; Michie Shimmoto; Y Suzuki
Carrier detection of Duchenne/Becker muscular dystrophy: computer-assisted direct quantitation of gene amplification products.
Brain & development 1992;14(2):80-3.
1992: K Yoshida; A Oshima; Hitoshi Sakuraba; T Nakano; N Yanagisawa; K Inui; S Okada; Eiichiro Uyama; R Namba; K Kondo
GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
Annals of neurology 1992;31(3):328-32.
1991: A Oshima; K Yoshida; Michie Shimmoto; Y Fukuhara; Hitoshi Sakuraba; Y Suzuki
Human beta-galactosidase gene mutations in morquio B disease.
American journal of human genetics 1991;49(5):1091-3.
1991: Hitoshi Sakuraba; K Ishii; Michie Shimmoto; H Yamada; Y Suzuki
A screening for dystrophin gene deletions in Japanese patients with Duchenne/Becker muscular dystrophy by the multiplex polymerase chain reaction.
Brain & development 1991;13(5):339-42.
1991: K Yoshida; A Oshima; Michie Shimmoto; Y Fukuhara; Hitoshi Sakuraba; N Yanagisawa; Y Suzuki
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
American journal of human genetics 1991;49(2):435-42.
1991: Kohji Itoh; N Takiyama; Y Nagao; A Oshima; Hitoshi Sakuraba; M Potier; Y Suzuki
Acid carboxypeptidase deficiency in galactosialidosis.
Jinrui idengaku zasshi. The Japanese journal of human genetics 1991;36(2):171-7.
1991: S Ishii; Hitoshi Sakuraba; Michie Shimmoto; R Minamikawa-Tachino; T Suzuki; Y Suzuki
Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes.
Annals of neurology 1991;29(5):560-4.
1991: Y Nagao; H Nakashima; Y Fukuhara; Michie Shimmoto; A Oshima; Y Ikari; Y Mori; Hitoshi Sakuraba; Y Suzuki
Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A.
Clinical genetics 1991;39(3):233-7.
1991: Y Suzuki; Hitoshi Sakuraba; A Oshima; K Yoshida; Michie Shimmoto; T Takano; Y Fukuhara
Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency.
Developmental neuroscience 1991;13(4-5):299-303.
1991: Kohji Itoh; A Oshima; Hitoshi Sakuraba; Y Suzuki
Characterization and purification of human beta-galactosidase overexpressed in recombinant baculovirus-infected Spodoptera frugiperda cells.
Journal of inherited metabolic disease 1991;14(5):813-8.
1990: Ryoichi Kase; Kohji Itoh; N Takiyama; A Oshima; Hitoshi Sakuraba; Y Suzuki
Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities.
Biochemical and biophysical research communications 1990;172(3):1175-9.
1990: Hitoshi Sakuraba; A Oshima; Y Fukuhara; Michie Shimmoto; Y Nagao; D F Bishop; R J Desnick; Y Suzuki
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
American journal of human genetics 1990;47(5):784-9.
1990: A Oshima; Kohji Itoh; Y Nagao; Hitoshi Sakuraba; Y Suzuki
Beta-galactosidase-deficient human fibroblasts: uptake and processing of the exogenous precursor enzyme expressed by stable transformant COS cells.
Human genetics 1990;85(5):505-8.
1990: Y Fukuhara; Hitoshi Sakuraba; A Oshima; Michie Shimmoto; Y Nagao; Y Nadaoka; T Suzuki; Y Suzuki
Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.
Biochemical and biophysical research communications 1990;170(1):296-300.
1990: Hitoshi Sakuraba; D F Bishop; T Suzuki; Y Suzuki; R J Desnick
[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease].
No to hattatsu. Brain and development 1990;22(3):247-52.
1990: Kohji Itoh; A Oshima; Hitoshi Sakuraba; Y Suzuki
Expression, glycosylation, and intracellular distribution of human beta-galactosidase in recombinant baculovirus-infected Spodoptera frugiperda cells.
Biochemical and biophysical research communications 1990;167(2):746-53.
1988: A Oshima; A Tsuji; Y Nagao; Hitoshi Sakuraba; Y Suzuki
Cloning, sequencing, and expression of cDNA for human beta-galactosidase.
Biochemical and biophysical research communications 1988;157(1):238-44.