「寄付講座 臨床遺伝学研究室」の研究業績のデータです。




[ 論 文 ]


1. 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.

2. Kitakaze K., Tasaki C., Tajima Y., Hirokawa T., Tsuji D., Sakuraba H., Itoh K.: Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts. Biochem. Biophys. Reports, 7: 157-163, 2016.

3. Kosuga M., Mashima R., Hirakiyama A., Fuji N., Kumagai T., Seo JH., Nikaido M., Saito S., Ohno K., Sakuraba H., Okuyama T.: Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. Mol. Genet. Metab., 118: 190-197, 2016.

4. Saito S., Ohno K., Okuyama T., Sakuraba H.: Structural basis of mucopolysaccharidosis type II and construction of a database of mutant iduronate 2-sulfatases. PLOS ONE, 11: e0163964, 2016.