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Results: 1-23 |
Results: 23
A POINT MUTATION IN THE NEU-1 LOCUS CAUSES THE NEURAMINIDASE DEFECT IN THE SM J MOUSE/
Authors: ROTTIER RJ BONTEN E DAZZO A
Citation: Rj. Rottier et al., A POINT MUTATION IN THE NEU-1 LOCUS CAUSES THE NEURAMINIDASE DEFECT IN THE SM J MOUSE/, Human molecular genetics, 7(2), 1998, pp. 313-321
LACK OF PPCA EXPRESSION ONLY PARTIALLY COINCIDES WITH LYSOSOMAL STORAGE IN GALACTOSIALIDOSIS MICE - INDIRECT EVIDENCE FOR SPATIAL REQUIREMENT OF THE CATALYTIC RATHER THAN THE PROTECTIVE FUNCTION OF PPCA
Authors: ROTTIER RJ HAHN CN MANN LW MARTIN MDP SMEYNE RJ SUZUKI K DAZZO A
Citation: Rj. Rottier et al., LACK OF PPCA EXPRESSION ONLY PARTIALLY COINCIDES WITH LYSOSOMAL STORAGE IN GALACTOSIALIDOSIS MICE - INDIRECT EVIDENCE FOR SPATIAL REQUIREMENT OF THE CATALYTIC RATHER THAN THE PROTECTIVE FUNCTION OF PPCA, Human molecular genetics (Print), 7(11), 1998, pp. 1787-1794
TRANSPORT OF HUMAN LYSOSOMAL NEURAMINIDASE TO MATURE LYSOSOMES REQUIRES PROTECTIVE PROTEIN CATHEPSIN-A
Authors: VANDERSPOEL A BONTEN E DAZZO A
Citation: A. Vanderspoel et al., TRANSPORT OF HUMAN LYSOSOMAL NEURAMINIDASE TO MATURE LYSOSOMES REQUIRES PROTECTIVE PROTEIN CATHEPSIN-A, EMBO journal, 17(6), 1998, pp. 1588-1597
THE ATOMIC MODEL OF THE HUMAN PROTECTIVE PROTEIN CATHEPSIN-A SUGGESTSA STRUCTURAL BASIS FOR GALACTOSIALIDOSIS
Authors: RUDENKO G BONTEN E HOL WGJ DAZZO A
Citation: G. Rudenko et al., THE ATOMIC MODEL OF THE HUMAN PROTECTIVE PROTEIN CATHEPSIN-A SUGGESTSA STRUCTURAL BASIS FOR GALACTOSIALIDOSIS, Proceedings of the National Academy of Sciences of the United Statesof America, 95(2), 1998, pp. 621-625
IDENTIFICATION OF THE PROMOTERS FOR THE HUMAN AND MURINE PROTECTIVE PROTEIN CATHEPSIN-A GENES
Authors: ROTTIER RJ DAZZO A
Citation: Rj. Rottier et A. Dazzo, IDENTIFICATION OF THE PROMOTERS FOR THE HUMAN AND MURINE PROTECTIVE PROTEIN CATHEPSIN-A GENES, DNA and cell biology, 16(5), 1997, pp. 599-610
GENERALIZED CNS DISEASE AND MASSIVE G(M1)-GANGLIOSIDE ACCUMULATION INMICE DEFECTIVE IN LYSOSOMAL ACID BETA-GALACTOSIDASE
Authors: HAHN CN MARTIN MD SCHRODER M VANIER MT HARA Y SUZUKI K SUZUKI K DAZZO A
Citation: Cn. Hahn et al., GENERALIZED CNS DISEASE AND MASSIVE G(M1)-GANGLIOSIDE ACCUMULATION INMICE DEFECTIVE IN LYSOSOMAL ACID BETA-GALACTOSIDASE, Human molecular genetics, 6(2), 1997, pp. 205-211
MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS (VOL 5, PG 1977, 1996)/
Authors: ZHOU XY VANDERSPOEL A ROTTIER R HALE G WILLEMSEN R BERRY GT STRISCIUGLIO P MORRONE A ZAMMARCHI E ANDRIA G DAZZO A
Citation: Xy. Zhou et al., MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS (VOL 5, PG 1977, 1996)/, Human molecular genetics, 6(1), 1997, pp. 146-146
ROLE OF PROTECTIVE PROTEIN CATHEPSIN-A IN THE ACTIVATION OF LYSOSOMALNEURAMINIDASE
Authors: VANDERSPOEL A BONTEN E DAZZO A
Citation: A. Vanderspoel et al., ROLE OF PROTECTIVE PROTEIN CATHEPSIN-A IN THE ACTIVATION OF LYSOSOMALNEURAMINIDASE, American journal of human genetics, 61(4), 1997, pp. 137-137
IDENTIFICATION OF NEW MUTATIONS IN 6 ITALIAN PATIENTS AFFECTED BY A VARIANT FORM OF INFANTILE GM1-GANGLIOSIDOSIS WITH SEVERE CARDIOMYOPATHY
Authors: MORRONE A BARDELLI T DONATI MA GIORGI M DIROCCO R GATTI R TADDEUCCI G RICCI R DAZZO A ZAMMARCHI E
Citation: A. Morrone et al., IDENTIFICATION OF NEW MUTATIONS IN 6 ITALIAN PATIENTS AFFECTED BY A VARIANT FORM OF INFANTILE GM1-GANGLIOSIDOSIS WITH SEVERE CARDIOMYOPATHY, American journal of human genetics, 61(4), 1997, pp. 1499-1499
MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN-A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS/
Authors: ZHOU XY VANDERSPOEL A ROTTIER R HALE G WILLEMSEN R BERRY GT STRISCIUGLIO P ANDRIA G DAZZO A
Citation: Xy. Zhou et al., MOLECULAR AND BIOCHEMICAL-ANALYSIS OF PROTECTIVE PROTEIN CATHEPSIN-A MUTATIONS - CORRELATION WITH CLINICAL SEVERITY IN GALACTOSIALIDOSIS/, Human molecular genetics, 5(12), 1996, pp. 1977-1987
STRUCTURE DETERMINATION OF THE HUMAN PROTECTIVE PROTEIN - TWOFOLD AVERAGING REVEALS THE 3-DIMENSIONAL STRUCTURE OF A DOMAIN WHICH WAS ENTIRELY ABSENT IN THE INITIAL MODEL
Authors: RUDENKO G BONTEN E DAZZO A HOL WGJ
Citation: G. Rudenko et al., STRUCTURE DETERMINATION OF THE HUMAN PROTECTIVE PROTEIN - TWOFOLD AVERAGING REVEALS THE 3-DIMENSIONAL STRUCTURE OF A DOMAIN WHICH WAS ENTIRELY ABSENT IN THE INITIAL MODEL, Acta crystallographica. Section D, Biological crystallography, 52, 1996, pp. 923-936
CHARACTERIZATION OF HUMAN LYSOSOMAL NEURAMINIDASE DEFINES THE MOLECULAR-BASIS OF THE METABOLIC STORAGE DISORDER SIALIDOSIS
Authors: BONTEN E VANDERSPOEL A FORNEROD M GROSVELD G DAZZO A
Citation: E. Bonten et al., CHARACTERIZATION OF HUMAN LYSOSOMAL NEURAMINIDASE DEFINES THE MOLECULAR-BASIS OF THE METABOLIC STORAGE DISORDER SIALIDOSIS, Genes & development, 10(24), 1996, pp. 3156-3169
EARLY-INFANTILE GALACTOSIALIDOSIS - CLINICAL, BIOCHEMICAL, AND MOLECULAR OBSERVATIONS IN A NEW PATIENT
Authors: ZAMMARCHI E DONATI MA MORRONE A DONZELLI GP ZHOU XY DAZZO A
Citation: E. Zammarchi et al., EARLY-INFANTILE GALACTOSIALIDOSIS - CLINICAL, BIOCHEMICAL, AND MOLECULAR OBSERVATIONS IN A NEW PATIENT, American journal of medical genetics, 64(3), 1996, pp. 453-458
CATHEPSIN-A DEFICIENCY IN GALACTOSIALIDOSIS - STUDIES OF PATIENTS ANDCARRIERS IN 16 FAMILIES
Authors: KLEIJER WJ GEILEN GC JANSE HC VANDIGGELEN OP ZHOU XY GALJART NJ GALJAARD H DAZZO A
Citation: Wj. Kleijer et al., CATHEPSIN-A DEFICIENCY IN GALACTOSIALIDOSIS - STUDIES OF PATIENTS ANDCARRIERS IN 16 FAMILIES, Pediatric research, 39(6), 1996, pp. 1067-1071
3-DIMENSIONAL STRUCTURE OF THE HUMAN PROTECTIVE PROTEIN - STRUCTURE OF THE PRECURSOR FORM SUGGESTS A COMPLEX ACTIVATION MECHANISM
Authors: RUDENKO G BONTEN E DAZZO A HOL WGJ
Citation: G. Rudenko et al., 3-DIMENSIONAL STRUCTURE OF THE HUMAN PROTECTIVE PROTEIN - STRUCTURE OF THE PRECURSOR FORM SUGGESTS A COMPLEX ACTIVATION MECHANISM, Structure, 3(11), 1995, pp. 1249-1259
MOUSE MODEL FOR THE LYSOSOMAL DISORDER GALACTOSIALIDOSIS AND CORRECTION OF THE PHENOTYPE WITH OVEREXPRESSING ERYTHROID PRECURSOR CELLS
Authors: ZHOU XY MORREAU H ROTTIER R DAVIS D BONTEN E GILLEMANS N WENGER D GROSVELD FG DOHERTY P SUZUKI K GROSVELD GC DAZZO A
Citation: Xy. Zhou et al., MOUSE MODEL FOR THE LYSOSOMAL DISORDER GALACTOSIALIDOSIS AND CORRECTION OF THE PHENOTYPE WITH OVEREXPRESSING ERYTHROID PRECURSOR CELLS, Genes & development, 9(21), 1995, pp. 2623-2634
LYSOSOMAL PROTECTIVE PROTEIN CATHEPSIN-A - ROLE OF THE LINKER DOMAIN IN CATALYTIC ACTIVATION
Authors: BONTEN EJ GALJART NJ WILLEMSEN R USMANY M VLAK JM DAZZO A
Citation: Ej. Bonten et al., LYSOSOMAL PROTECTIVE PROTEIN CATHEPSIN-A - ROLE OF THE LINKER DOMAIN IN CATALYTIC ACTIVATION, The Journal of biological chemistry, 270(44), 1995, pp. 26441-26445
RESCUE OF GALACTOSIALIDOSIS KNOCKOUT MICE BY TRANSPLANTATION OF BONE-MARROW OVEREXPRESSING THE THERAPEUTIC PROTEIN IN ERYTHROID PRECURSORS
Authors: DAZZO A MORREAU H ROTTIER R WENGER D DAVIS D ZHOU XY
Citation: A. Dazzo et al., RESCUE OF GALACTOSIALIDOSIS KNOCKOUT MICE BY TRANSPLANTATION OF BONE-MARROW OVEREXPRESSING THE THERAPEUTIC PROTEIN IN ERYTHROID PRECURSORS, American journal of human genetics, 57(4), 1995, pp. 9-9
X-RAY STRUCTURE OF THE HUMAN PROTECTIVE PROTEIN CATHEPSIN-A PRECURSOR- THE DEFECTIVE PROTEIN IN THE LYSOSOMAL STORAGE DISEASE GALACTOSIALIDOSIS
Authors: RUDENKO G BONTEN E HOL W DAZZO A
Citation: G. Rudenko et al., X-RAY STRUCTURE OF THE HUMAN PROTECTIVE PROTEIN CATHEPSIN-A PRECURSOR- THE DEFECTIVE PROTEIN IN THE LYSOSOMAL STORAGE DISEASE GALACTOSIALIDOSIS, American journal of human genetics, 57(4), 1995, pp. 189-189
INSERTION OF A T NEXT TO THE DONOR SPLICE-SITE OF INTRON-1 CAUSES ABERRANTLY SPLICED MESSENGER-RNA IN A CASE OF INFANTILE G(M1)-GANGLIOSIDOSIS
Authors: MORRONE A MORREAU H ZHOU XY ZAMMARCHI E KLEIJER WJ GALJAARD H DAZZO A
Citation: A. Morrone et al., INSERTION OF A T NEXT TO THE DONOR SPLICE-SITE OF INTRON-1 CAUSES ABERRANTLY SPLICED MESSENGER-RNA IN A CASE OF INFANTILE G(M1)-GANGLIOSIDOSIS, Human mutation, 3(2), 1994, pp. 112-120
LCR-DIRECTED EXPRESSION OF HUMAN PROTECTIVE PROTEIN CATHEPSIN-A IN TRANSGENIC MICE
Authors: DAZZO A ZHOU XY WILLEMSEN R FRASER P GROSVELD FG GROSVELD GC
Citation: A. Dazzo et al., LCR-DIRECTED EXPRESSION OF HUMAN PROTECTIVE PROTEIN CATHEPSIN-A IN TRANSGENIC MICE, American journal of human genetics, 53(3), 1993, pp. 673-673
INFANTILE GM1-GANGLIOSIDOSIS - A SINGLE-BASE SUBSTITUTION AT A SPLICEDONOR SITE OF THE BETA-GALACTOSIDASE GENE LEADS TO ABERRANTLY SPLICEDTRANSCRIPTS
Authors: MORRONE A MORREAU H ZHOU XY ZAMMARCHI E DAZZO A
Citation: A. Morrone et al., INFANTILE GM1-GANGLIOSIDOSIS - A SINGLE-BASE SUBSTITUTION AT A SPLICEDONOR SITE OF THE BETA-GALACTOSIDASE GENE LEADS TO ABERRANTLY SPLICEDTRANSCRIPTS, American journal of human genetics, 53(3), 1993, pp. 930-930
COMMON POINT MUTATIONS IN 4 PATIENTS WITH THE LATE INFANTILE FORM OF GALACTOSIALIDOSIS
Authors: ZHOU XY WILLEMSEN R GILLEMANS N MORRONE A STRISCIUGLIO P ANDRIA G APPLEGARTH DA DAZZO A
Citation: Xy. Zhou et al., COMMON POINT MUTATIONS IN 4 PATIENTS WITH THE LATE INFANTILE FORM OF GALACTOSIALIDOSIS, American journal of human genetics, 53(3), 1993, pp. 966-966
Risultati: 1-23 |