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Results: 1-7 |
Results: 7
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis
Authors: Takiguchi, K Itoh, K Shimmoto, M Ozand, PT Doi, H Sakuraba, H
Citation: K. Takiguchi et al., Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis, J HUM GENET, 45(4), 2000, pp. 200-206
Molecular and structural studies of Japanese patients with sialidosis type1
Authors: Naganawa, Y Itoh, K Shimmoto, M Takiguchi, K Doi, H Nishizawa, Y Kiobayashi, T Kamei, S Lukong, KE Pshezhetsky, AV Sakuraba, H
Citation: Y. Naganawa et al., Molecular and structural studies of Japanese patients with sialidosis type1, J HUM GENET, 45(4), 2000, pp. 241-249
Endothelin-1 in the brain of patients with galactosialidosis: Its abnormalincrease and distribution pattern
Authors: Itoh, K Oyanagi, K Takahashi, H Sato, T Hashizume, Y Shimmoto, M Sakuraba, H
Citation: K. Itoh et al., Endothelin-1 in the brain of patients with galactosialidosis: Its abnormalincrease and distribution pattern, ANN NEUROL, 47(1), 2000, pp. 122-126
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
Authors: Naganawa, Y Itoh, K Shimmoto, M Kamei, S Takiguchi, K Doi, H Sakuraba, H
Citation: Y. Naganawa et al., 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, BIOCHEM J, 340, 1999, pp. 467-474
GM2 gangliosidosis AB variant - Clinical and biochemical studies of a Japanese patient
Authors: Sakuraba, H Itoh, K Shimmoto, M Utsumi, K Kase, R Hashimoto, Y Ozawa, T Ohwada, Y Imataka, G Eguchi, M Furukawa, T Schepers, U Sandhoff, K
Citation: H. Sakuraba et al., GM2 gangliosidosis AB variant - Clinical and biochemical studies of a Japanese patient, NEUROLOGY, 52(2), 1999, pp. 372-377
Urinary excretion of the vitronectin receptor (integrin alpha(v)beta(3)) in patients with Fabry disease
Authors: Utsumi, K Itoh, K Kase, R Shimmoto, M Yamamoto, N Katagiri, Y Tanoue, K Kotani, M Ozawa, T Oguchi, T Sakuraba, H
Citation: K. Utsumi et al., Urinary excretion of the vitronectin receptor (integrin alpha(v)beta(3)) in patients with Fabry disease, CLIN CHIM A, 279(1-2), 1999, pp. 55-68
Stabilizing effect of lysosomal beta-galactosidase on the catalytic activity of protective protein cathepsin A secreted by human platelets
Authors: Itoh, K Naganawa, Y Kamei, S Shimmoto, M Sakuraba, H
Citation: K. Itoh et al., Stabilizing effect of lysosomal beta-galactosidase on the catalytic activity of protective protein cathepsin A secreted by human platelets, BIOC BIOP R, 253(2), 1998, pp. 228-234
Risultati: 1-7 |