研究

研究室

教授:櫻庭 均(サクラバ ヒトシ)

研究室

臨床遺伝学

最終学歴

東京大学医学部医学科卒(1974年)

学位

博士(医学) (東京大学:1995年)

専門分野

臨床遺伝学、小児科学

研究課題

遺伝性難病の分子病態解明と診断・治療法の開発

所属学会

日本先天代謝異常学会、日本ライソゾーム病研究会、日本生化学会、日本小児科学会、日本ムコ多糖症研究会

学会活動

日本ライソゾーム病研究会幹事、日本ムコ多糖症研究会幹事

受賞歴

2016年度日本先天代謝異常学会 学会賞. 受賞講演: 第58回 日本先天代謝異常学会総会、2016. 10. 27-29, 東京

依頼公演

Sakuraba H. Globotriaosylsphingosine (Lyso-Gb3): A possible biomarker of Fabry disease, International Lysosomal Disease. Web Conference: Meet the World Famous Professors. (Tokyo, Japan, 2021/03)

研究業績1

Sakuraba H, Chiba Y, Kotani M, Kawashima I, Ohsawa M, Tajima Y, Takaoka Y, Jigami Y, Takahashi H, Hirai Y, Shimada T, Hashimoto Y, Ishii K, Kobayashi T, Watabe K, Fukushige T, Kanzaki T. Corrective effect on Fabry mice of yeast recombinant human α-galactosidase with N-linked sugar chains suitable for lysosomal delivery. J. Hum. Genet, 51, 341-352 (2006) DOI: 10.1007/s10038-006-0369-6

研究業績2

Tajima Y, Kawashima I, Tsukimura T, Sugawara K, Kuroda M, Suzuki T, Togawa T, Chiba Y, Jigami Y, Ohno K, Fukushige T, Kanekura T, Itoh K, Ohashi T, Sakuraba H. Use of a modified α-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet, 85, 569-580 (2009) DOI: 10.1016/j.ajhg.2009.09.016

研究業績3

Maita N, Tsukimura T, Taniguchi T, Saito S, Ohno K, Taniguchi H, Sakuraba H. Human α-L-iduronidase uses its own N-glycan as a substrate-binding and catalytic module. Proc. Natl. Acad. Sci. U. S. A, 110, 14628-14633 (2013) DOI: 10.1073/pnas.1306939110

研究業績4

Saito S, Ohno K, Sakuraba H. Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A. PLoS ONE, 8: e 84267 (2013) DOI: 10.1371/journal.pone.0084267

研究業績5

Sueoka H, Ichihara J, Tsukimura T, Togawa T, Sakuraba H. Nano-LC-MS/MS for quantification of Lyso-Gb3 and its analogues reveals a useful biomarker for Fabry disease. PLOS ONE, 10, e0127048 (2015) DOI: 10.1371/journal.pone.0127048

研究業績6

Kitakaze K, Mizutani Y, Sugiyama E, Tasaki C, Tsuji D, Maita N, Hirokawa T, Asanuma D, Kamiya M, Sato K, Setou M, Urano Y, Togawa T, Otaka A, Sakuraba H, Itoh K. Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model. J. Clin. Invest, 126, 1691-1703 (2016) DOI: 10.1172/JCI85300

研究業績7

Sakuraba H, Togawa T, Tsukimura T, Kato H. Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy. Clin. Exp. Nephrol, 22, 843-849 (2018) DOI: 10.1007/s10157-017-1525-3

研究業績8

Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. Hum. Mutat, 39, 1788-1802 (2018) doi: 10.1002/humu.23613. DOI: 10.1002/humu.23613

研究業績9

Sakuraba H, Tsukimura T, Togawa T, Tanaka T, Ohtsuka T, Sato A, Shiga T, Saito S, Ohno K. Fabry disease in a Japanese population-molecular and biochemical characteristics. Mol. Genet. Metab. Reports, 17, 73–79 (2018) DOI: 10.1016/j.ymgmr.2018.10.004

研究業績10

Tsukimura T, Tayama Y, Shiga T, Hirai K, Togawa T, Sakuraba H. Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy. Mol. Genet. Metab. Reports, 25, 100650 (2020) DOI: 10.1016/j.ymgmr.2020.100650