「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. Saito S., Ohno K., Maita N., Sakuraba H.: Structural and clinical implications of amino acid substitutions in α-L-iduronidase: Insight into the basis of mucopolysaccharidosis type I. Mol. Genet. Metab., 111: 107-112, 2014. 2. Mohammad A Hossain., Otomo T., Saito S., Ohno K., Sakuraba H., Hamada Y., Ozono K., Sakai N.: Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile onset form. Gene, 534: 144-154, 2014. 3. Togawa T., Takada M., Aizawa Y., Tsukimura T., Chiba Y., Sakuraba H.: Comparative study on mannose 6-phosphate residue contents of recombinant lysosomal enzymes. Mol. Genet. Metab., 111: 369-373, 2014. 4. Yu Y., Mena-Barragan T., Higaki K., Johnson JL., Drury JE., Lieberman RL., Nakasone N., Ninomiya H., Tsukimura T., Sakuraba H., Suzuki Y., Nanba E., Mellet CO., Garcia Fernandez JM., Ohno K.: Molecular basis of 1-deoxygalactonojirimycin arylthiourea binding to human α-galactosidase A: Pharmacological chaperoning efficacy on Fabry disease mutants. ACS Chem Biol., 9: 1460-1469, 2014. 5. Takahashi N., Yokoi S., Kasuno K., Kogami A., Tsukimura T., Togawa T., Saito S., Ohno K., Hara M., Kurosawa H., Hirayama Y., Kurose T., Yokoyama Y., Mikami D., Kimura H., Naiki H., Sakuraba H., Iwano M.: A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes. Clin Nephrol., in press. 6. Tsukimura T., Nakano S., Togawa T., Tanaka T., Saito S., Ohno K., Shibasaki F., Sakuraba H.: Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease. Mol. Genet. Metab. Reports., 1: 288-298, 2014.