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Results: 1-25 | 26-27
Results: 1-25/27
NOVEL MISSENSE MUTATION (M72V) OF ALPHA-GALACTOSIDASE GENE AND ITS EXPRESSION PRODUCT IN AN ATYPICAL FABRY HEMIZYGOTE
Authors: OKUMIYA T KAWAMURA O ITOH K KASE R ISHII S KAMEI S SAKURABA H
Citation: T. Okumiya et al., NOVEL MISSENSE MUTATION (M72V) OF ALPHA-GALACTOSIDASE GENE AND ITS EXPRESSION PRODUCT IN AN ATYPICAL FABRY HEMIZYGOTE, Human mutation, 1998, pp. 213-216
IMMUNOHISTOCHEMICAL CHARACTERIZATION OF TRANSGENIC MICE HIGHLY EXPRESSING HUMAN LYSOSOMAL ALPHA-GALACTOSIDASE
Authors: KASE R SHIMMOTO M ITOH K UTSUMI K KOTANI M TAYA C YONEKAWA H SAKURABA H
Citation: R. Kase et al., IMMUNOHISTOCHEMICAL CHARACTERIZATION OF TRANSGENIC MICE HIGHLY EXPRESSING HUMAN LYSOSOMAL ALPHA-GALACTOSIDASE, Biochimica et biophysica acta. Molecular basis of disease, 1406(3), 1998, pp. 260-266
ALPHA-GALACTOSIDASE TRANSGENIC MOUSE - HETEROGENEOUS GENE-EXPRESSION AND POSTTRANSLATIONAL GLYCOSYLATION IN TISSUES
Authors: ISHII S KASE R SAKURABA H TAYA C YONEKAWA H OKUMIYA T MATSUDA Y MANNEN K TAKESHITA M SUZUKI Y
Citation: S. Ishii et al., ALPHA-GALACTOSIDASE TRANSGENIC MOUSE - HETEROGENEOUS GENE-EXPRESSION AND POSTTRANSLATIONAL GLYCOSYLATION IN TISSUES, Glycoconjugate journal, 15(6), 1998, pp. 591-594
ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE
Authors: HARA A UYAMA E UCHINO M SHIMMOTO M UTSUMI K ITOH K KASE R NAITO M SUGIYAMA E TAKETOMI T SUKEGAWA K SAKURABA H
Citation: A. Hara et al., ADULT SANDHOFFS-DISEASE - R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE CASE, Journal of the neurological sciences, 155(1), 1998, pp. 86-91
THE URINARY-EXCRETION OF VITRONECTIN RECEPTOR IN PATIENTS WITH FABRY-DISEASE
Authors: UTSUMI K ITOH K KASE R SHIMMOTO M HAYAMA N IINO Y SAKURABA H
Citation: K. Utsumi et al., THE URINARY-EXCRETION OF VITRONECTIN RECEPTOR IN PATIENTS WITH FABRY-DISEASE, Journal of the American Society of Nephrology, 8, 1997, pp. 1831-1831
HIGH-INCIDENCE OF THROMBOSIS IN FABRYS-DISEASE
Authors: UTSUMI K YAMAMOTO N KASE R TAKATA T OKUMIYA T SAITO H SUZUKI T UYAMA E SAKURABA H
Citation: K. Utsumi et al., HIGH-INCIDENCE OF THROMBOSIS IN FABRYS-DISEASE, Internal medicine, 36(5), 1997, pp. 327-329
SCREENING AND DETECTION OF GENE-MUTATIONS IN JAPANESE PATIENTS WITH FABRY DISEASE BY NONRADIOACTIVE SINGLE-STRANDED CONFORMATION POLYMORPHISM ANALYSIS
Authors: TAKATA T OKUMIYA T HAYASHIBE H SHIMMOTO M KASE R ITOH K UTSUMI K KAMEI S SAKURABA H
Citation: T. Takata et al., SCREENING AND DETECTION OF GENE-MUTATIONS IN JAPANESE PATIENTS WITH FABRY DISEASE BY NONRADIOACTIVE SINGLE-STRANDED CONFORMATION POLYMORPHISM ANALYSIS, Brain & development, 19(2), 1997, pp. 111-116
R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE ADULT CASE OF SANDHOFFS-DISEASE
Authors: UYAMA E HARA A IKENO K KASE R SHIMMOTO M SAKURABA H UCHINO M
Citation: E. Uyama et al., R505Q AND I207V SUBSTITUTIONS IN THE HEXB GENE OF THE FIRST JAPANESE ADULT CASE OF SANDHOFFS-DISEASE, Annals of neurology, 42(3), 1997, pp. 46-46
CLINICAL MANIFESTATIONS IN 105 PERSONS WITH NEVOID BASAL-CELL CARCINOMA SYNDROME
Authors: KIMONIS VE GOLDSTEIN AM PASTAKIA B YANG ML KASE R DIGIOVANNA JJ BALE AE BALE SJ
Citation: Ve. Kimonis et al., CLINICAL MANIFESTATIONS IN 105 PERSONS WITH NEVOID BASAL-CELL CARCINOMA SYNDROME, American journal of medical genetics, 69(3), 1997, pp. 299-308
GENERATION AND CHARACTERIZATION OF TRANSGENIC MICE EXPRESSING A HUMANMUTANT ALPHA-GALACTOSIDASE WITH AN R301Q SUBSTITUTION CAUSING A VARIANT FORM OF FABRY DISEASE
Authors: SHIMMOTO M KASE R ITOH K UTSUMI K ISHII S TAYA C YONEKAWA H SAKURABA H
Citation: M. Shimmoto et al., GENERATION AND CHARACTERIZATION OF TRANSGENIC MICE EXPRESSING A HUMANMUTANT ALPHA-GALACTOSIDASE WITH AN R301Q SUBSTITUTION CAUSING A VARIANT FORM OF FABRY DISEASE, FEBS letters, 417(1), 1997, pp. 89-91
IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE
Authors: SAKURABA H ITOH K KUROKI Y KASE R SHIMMOTO M UTSUMI K OZAWA H TAI T HARA A UYAMA E
Citation: H. Sakuraba et al., IMMUNOCYTOCHEMICAL DETECTION OF ACCUMULATED SUBSTRATES IN CULTURED FIBROBLASTS FROM PATIENTS WITH THE INFANTILE AND ADULT FORMS OF SANDHOFF-DISEASE, Clinica chimica acta, 265(2), 1997, pp. 263-266
GENERATION AND CHARACTERIZATION OF MOUSE MONOCLONAL-ANTIBODIES SPECIFIC FOR N-LINKED NEUTRAL OLIGOSACCHARIDES OF GLYCOPROTEINS
Authors: OZAWA H YAMASHITA K SAKURABA H ITOH K KASE R TAI T
Citation: H. Ozawa et al., GENERATION AND CHARACTERIZATION OF MOUSE MONOCLONAL-ANTIBODIES SPECIFIC FOR N-LINKED NEUTRAL OLIGOSACCHARIDES OF GLYCOPROTEINS, Archives of biochemistry and biophysics, 342(1), 1997, pp. 48-57
2 NOVEL MUTATIONS IN THE ALPHA-GALACTOSIDASE GENE IN JAPANESE CLASSICAL HEMIZYGOTES WITH FABRY DISEASE
Authors: OKUMIYA T TAKENAKA T ISHII S KASE R KAMEI S SAKURABA H
Citation: T. Okumiya et al., 2 NOVEL MUTATIONS IN THE ALPHA-GALACTOSIDASE GENE IN JAPANESE CLASSICAL HEMIZYGOTES WITH FABRY DISEASE, JPN J HUM G, 41(3), 1996, pp. 313-321
CLINICAL-FEATURES IN CHILDREN WITH NEVOID BASAL-CELL CARCINOMA SYNDROME
Authors: KIMONIS VE GOLDSTEIN AM PASTAKIA B YANG ML KASE R DIGIOVANNA JJ BALE AE BALE SJ
Citation: Ve. Kimonis et al., CLINICAL-FEATURES IN CHILDREN WITH NEVOID BASAL-CELL CARCINOMA SYNDROME, Pediatric research, 39(4), 1996, pp. 863-863
ONLY SPHINGOLIPID ACTIVATOR PROTEIN-B (SAP-B OR SAPOSIN-B) STIMULATESTHE DEGRADATION OF GLOBOTRIAOSYLCERAMIDE BY RECOMBINANT HUMAN LYSOSOMAL ALPHA-GALACTOSIDASE IN A DETERGENT-FREE LIPOSOMAL SYSTEM
Authors: KASE R BIERFREUND U KLEIN A KOLTER T ITOH K SUZUKI M HASHIMOTO Y SANDHOFF K SAKURABA H
Citation: R. Kase et al., ONLY SPHINGOLIPID ACTIVATOR PROTEIN-B (SAP-B OR SAPOSIN-B) STIMULATESTHE DEGRADATION OF GLOBOTRIAOSYLCERAMIDE BY RECOMBINANT HUMAN LYSOSOMAL ALPHA-GALACTOSIDASE IN A DETERGENT-FREE LIPOSOMAL SYSTEM, FEBS letters, 393(1), 1996, pp. 74-76
AGGREGATION OF THE INACTIVE FORM OF HUMAN ALPHA-GALACTOSIDASE IN THE ENDOPLASMIC-RETICULUM
Authors: ISHII S KASE R OKUMIYA T SAKURABA H SUZUKI Y
Citation: S. Ishii et al., AGGREGATION OF THE INACTIVE FORM OF HUMAN ALPHA-GALACTOSIDASE IN THE ENDOPLASMIC-RETICULUM, Biochemical and biophysical research communications, 220(3), 1996, pp. 812-815
THE FUNCTIONAL-ROLE OF GLUTAMINE-280 AND THREONINE-282 IN HUMAN ALPHA-GALACTOSIDASE
Authors: ISHII S KASE R SAKURABA H SUZUKI Y
Citation: S. Ishii et al., THE FUNCTIONAL-ROLE OF GLUTAMINE-280 AND THREONINE-282 IN HUMAN ALPHA-GALACTOSIDASE, Biochimica et biophysica acta. Molecular basis of disease, 1270(2-3), 1995, pp. 163-167
ALPHA-GALACTOSIDASE GENE-MUTATIONS IN FABRY DISEASE - HETEROGENEOUS EXPRESSIONS OF MUTANT ENZYME PROTEINS
Authors: OKUMIYA T ISHII S KASE R KAMEI S SAKURABA H SUZUKI Y
Citation: T. Okumiya et al., ALPHA-GALACTOSIDASE GENE-MUTATIONS IN FABRY DISEASE - HETEROGENEOUS EXPRESSIONS OF MUTANT ENZYME PROTEINS, Human genetics, 95(5), 1995, pp. 557-561
PROTECTIVE PROTEIN AS AN ENDOGENOUS ENDOTHELIN DEGRADATION ENZYME IN HUMAN TISSUES
Authors: ITOH K KASE R SHIMMOTO M SATAKE A SAKURABA H SUZUKI Y
Citation: K. Itoh et al., PROTECTIVE PROTEIN AS AN ENDOGENOUS ENDOTHELIN DEGRADATION ENZYME IN HUMAN TISSUES, The Journal of biological chemistry, 270(2), 1995, pp. 515-518
GALACTOSE STABILIZES VARIOUS MISSENSE MUTANTS OF ALPHA-GALACTOSIDASE IN FABRY DISEASE
Authors: OKUMIYA T ISHII S TAKENAKA T KASE R KAMEI S SAKURABA H SUZUKI Y
Citation: T. Okumiya et al., GALACTOSE STABILIZES VARIOUS MISSENSE MUTANTS OF ALPHA-GALACTOSIDASE IN FABRY DISEASE, Biochemical and biophysical research communications, 214(3), 1995, pp. 1219-1224
INTRACELLULAR PROCESSING AND MATURATION OF MUTANT-GENE PRODUCTS IN HEREDITARY BETA-GALACTOSIDASE DEFICIENCY (BETA-GALACTOSIDOSIS)
Authors: OSHIMA A YOSHIDA K ITOH K KASE R SAKURABA H SUZUKI Y
Citation: A. Oshima et al., INTRACELLULAR PROCESSING AND MATURATION OF MUTANT-GENE PRODUCTS IN HEREDITARY BETA-GALACTOSIDASE DEFICIENCY (BETA-GALACTOSIDOSIS), Human genetics, 93(2), 1994, pp. 109-114
ON THE FORMATION AND SPREADING OF THE BASS STRAIT CASCADE
Authors: LUICK JL KASE R TOMCZAK M
Citation: Jl. Luick et al., ON THE FORMATION AND SPREADING OF THE BASS STRAIT CASCADE, Continental shelf research, 14(4), 1994, pp. 385-399
HUMAN ALPHA-GALACTOSIDASE GENE-EXPRESSION - SIGNIFICANCE OF 2 PEPTIDEREGIONS ENCODED BY EXONS 1-2 AND 6
Authors: ISHII S KASE R SAKURABA H FUJITA S SUGIMOTO M TOMITA K SEMBA T SUZUKI Y
Citation: S. Ishii et al., HUMAN ALPHA-GALACTOSIDASE GENE-EXPRESSION - SIGNIFICANCE OF 2 PEPTIDEREGIONS ENCODED BY EXONS 1-2 AND 6, Biochimica et biophysica acta. Protein structure and molecular enzymology, 1204(2), 1994, pp. 265-270
CLINICAL FINDINGS IN 2 AFRICAN-AMERICAN FAMILIES WITH THE NEVOID BASAL-CELL CARCINOMA SYNDROME (NBCC)
Authors: GOLDSTEIN AM PASTAKIA B DIGIOVANNA JJ POLIAK S SANTUCCI S KASE R BALE AE BALE SJ
Citation: Am. Goldstein et al., CLINICAL FINDINGS IN 2 AFRICAN-AMERICAN FAMILIES WITH THE NEVOID BASAL-CELL CARCINOMA SYNDROME (NBCC), American journal of medical genetics, 50(3), 1994, pp. 272-281
LYSOSOMAL-ENZYME REPLACEMENT USING ALPHA(2)-MACROGLOBULIN AS A TRANSPORT VEHICLE
Authors: TSUJI A ODA R SAKIYAMA K NAGAMUNE H ITOH K KASE R SAKURABA H SUZUKI Y MATSUDA Y
Citation: A. Tsuji et al., LYSOSOMAL-ENZYME REPLACEMENT USING ALPHA(2)-MACROGLOBULIN AS A TRANSPORT VEHICLE, Journal of Biochemistry, 115(5), 1994, pp. 937-944
Risultati: 1-25 | 26-27