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| Title : Structural bases of Wolman disease and cholesteryl ester storage disease - Saito_2012_Mol.Genet.Metab_105_244 |
| Author(s) : Saito S , Ohno K , Suzuki T , Sakuraba H |
| Ref : Mol Genet Metab , 105 :244 , 2012 |
| Abstract : Saito_2012_Mol.Genet.Metab_105_244 |
| ESTHER : Saito_2012_Mol.Genet.Metab_105_244 |
| PubMedSearch : Saito_2012_Mol.Genet.Metab_105_244 |
| PubMedID: 22138108 |
| Gene_locus related to this paper: human-LIPA |
| Title : Structural basis of neuronal ceroid lipofuscinosis 1 - Ohno_2010_Brain.Dev_32_524 |
| Author(s) : Ohno K , Saito S , Sugawara K , Suzuki T , Togawa T , Sakuraba H |
| Ref : Brain Dev , 32 :524 , 2010 |
| Abstract : Ohno_2010_Brain.Dev_32_524 |
| ESTHER : Ohno_2010_Brain.Dev_32_524 |
| PubMedSearch : Ohno_2010_Brain.Dev_32_524 |
| PubMedID: 19793631 |
| Gene_locus related to this paper: human-PPT1 |
| Title : Structural and functional study of K453E mutant protective protein\/cathepsin A causing the late infantile form of galactosialidosis - Takiguchi_2000_J.Hum.Genet_45_200 |
| Author(s) : Takiguchi K , Itoh K , Shimmoto M , Ozand PT , Doi H , Sakuraba H |
| Ref : J Hum Genet , 45 :200 , 2000 |
| Abstract : Takiguchi_2000_J.Hum.Genet_45_200 |
| ESTHER : Takiguchi_2000_J.Hum.Genet_45_200 |
| PubMedSearch : Takiguchi_2000_J.Hum.Genet_45_200 |
| PubMedID: 10944848 |
| Gene_locus related to this paper: human-CTSA |
| Title : A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease - |
| Author(s) : Fujiyama J , Sakuraba H , Kuriyama M , Fujita T , Nagata K , Nakagawa H , Osame M |
| Ref : Hum Mutat , 8 :377 , 1996 |
| PubMedID: 8956047 |
| Gene_locus related to this paper: human-LIPA |
| Title : Protective protein gene mutations in galactosialidosis - Shimmoto_1993_J.Clin.Invest_91_2393 |
| Author(s) : Shimmoto M , Fukuhara Y , Itoh K , Oshima A , Sakuraba H , Suzuki Y |
| Ref : J Clinical Investigation , 91 :2393 , 1993 |
| Abstract : Shimmoto_1993_J.Clin.Invest_91_2393 |
| ESTHER : Shimmoto_1993_J.Clin.Invest_91_2393 |
| PubMedSearch : Shimmoto_1993_J.Clin.Invest_91_2393 |
| PubMedID: 8514852 |
| Gene_locus related to this paper: human-CTSA |
| Title : A new point mutation of protective protein gene in two Japanese siblings with juvenile galactosialidosis. - |
| Author(s) : Fukuhara Y , Takano T , Shimmoto M , Oshima A , Takeda E , Kuroda Y , Sakuraba H , Suzuki Y |
| Ref : Brain Dysfunction , 5 :319 , 1992 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: clinical and molecular analysis of 19 Japanese patients. - |
| Author(s) : Takano T , Shimmoto M , Fukuhara Y , Itoh K , Kase R , Takiyama N , Kobayashi T , Oshima A , Sakuraba H , Suzuki Y |
| Ref : Brain Dysfunction , 4 :271 , 1991 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities - Kase_1990_Biochem.Biophys.Res.Commun_172_1175 |
| Author(s) : Kase R , Itoh K , Takiyama N , Oshima A , Sakuraba H , Suzuki Y |
| Ref : Biochemical & Biophysical Research Communications , 172 :1175 , 1990 |
| Abstract : Kase_1990_Biochem.Biophys.Res.Commun_172_1175 |
| ESTHER : Kase_1990_Biochem.Biophys.Res.Commun_172_1175 |
| PubMedSearch : Kase_1990_Biochem.Biophys.Res.Commun_172_1175 |
| PubMedID: 2244901 |
| Gene_locus related to this paper: human-CTSA |
| Title : Japanese-type adult galactosialidosis: a unique and common splice junction mutation causing exon skipping in the protective protein\/carboxypeptidase gene - |
| Author(s) : Shimmoto M , Takano T , Fukuhara Y , Oshima A , Sakuraba H , Suzuki Y |
| Ref : Proc Jpn Acad , 66B :217 , 1990 |
| PubMedID: |
| Gene_locus related to this paper: human-CTSA |
| Title : Galactosialidosis: low beta-galactosidase activity in serum after long-term clotting - Sakuraba_1985_Ann.Neurol_18_261 |
| Author(s) : Sakuraba H , Iimori Y , Suzuki Y , Kint JA , Akagi M |
| Ref : Annals of Neurology , 18 :261 , 1985 |
| Abstract : Sakuraba_1985_Ann.Neurol_18_261 |
| ESTHER : Sakuraba_1985_Ann.Neurol_18_261 |
| PubMedSearch : Sakuraba_1985_Ann.Neurol_18_261 |
| PubMedID: 3929673 |
| Gene_locus related to this paper: human-CTSA |
| Title : Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors - Suzuki_1981_J.Biochem_90_271 |
| Author(s) : Suzuki Y , Sakuraba H , Hayashi K , Suzuki K , Imahori K |
| Ref : J Biochem , 90 :271 , 1981 |
| Abstract : Suzuki_1981_J.Biochem_90_271 |
| ESTHER : Suzuki_1981_J.Biochem_90_271 |
| PubMedSearch : Suzuki_1981_J.Biochem_90_271 |
| PubMedID: 6793566 |
| Gene_locus related to this paper: human-CTSA |
| Title : beta-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts - Suzuki_1981_Hum.Genet_58_387 |
| Author(s) : Suzuki Y , Sakuraba H , Potier M , Akagi M , Sakai M , Beppu H |
| Ref : Hum Genet , 58 :387 , 1981 |
| Abstract : Suzuki_1981_Hum.Genet_58_387 |
| ESTHER : Suzuki_1981_Hum.Genet_58_387 |
| PubMedSearch : Suzuki_1981_Hum.Genet_58_387 |
| PubMedID: 7327559 |
| Gene_locus related to this paper: human-CTSA |