d'Azzo A - Search Results

1

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.

de Geest N, Bonten E, Mann L, de Sousa-Hitzler J, Hahn C, d'Azzo A. de Geest N, et al. Hum Mol Genet. 2002 Jun 1;11(12):1455-64. doi: 10.1093/hmg/11.12.1455. Hum Mol Genet. 2002. PMID: 12023988

2

Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function.

Galjart NJ, Morreau H, Willemsen R, Gillemans N, Bonten EJ, d'Azzo A. Galjart NJ, et al. J Biol Chem. 1991 Aug 5;266(22):14754-62. J Biol Chem. 1991. PMID: 1907282 Free article.

3

Organization of the gene encoding human lysosomal beta-galactosidase.

Morreau H, Bonten E, Zhou XY, D'Azzo A. Morreau H, et al. DNA Cell Biol. 1991 Sep;10(7):495-504. doi: 10.1089/dna.1991.10.495. DNA Cell Biol. 1991. PMID: 1909871

4

Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.

Zhou XY, Morreau H, Rottier R, Davis D, Bonten E, Gillemans N, Wenger D, Grosveld FG, Doherty P, Suzuki K, Grosveld GC, d'Azzo A. Zhou XY, et al. Genes Dev. 1995 Nov 1;9(21):2623-34. doi: 10.1101/gad.9.21.2623. Genes Dev. 1995. PMID: 7590240 Free article.

5

Lysosomal protective protein/cathepsin A. Role of the "linker" domain in catalytic activation.

Bonten EJ, Galjart NJ, Willemsen R, Usmany M, Vlak JM, d'Azzo A. Bonten EJ, et al. J Biol Chem. 1995 Nov 3;270(44):26441-5. doi: 10.1074/jbc.270.44.26441. J Biol Chem. 1995. PMID: 7592859 Free article.

6

Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism.

Rudenko G, Bonten E, d'Azzo A, Hol WG. Rudenko G, et al. Structure. 1995 Nov 15;3(11):1249-59. doi: 10.1016/s0969-2126(01)00260-x. Structure. 1995. PMID: 8591035 Free article.

7

Cathepsin A deficiency in galactosialidosis: studies of patients and carriers in 16 families.

Kleijer WJ, Geilen GC, Janse HC, van Diggelen OP, Zhou XY, Galjart NJ, Galjaard H, d'Azzo A. Kleijer WJ, et al. Pediatr Res. 1996 Jun;39(6):1067-71. doi: 10.1203/00006450-199606000-00022. Pediatr Res. 1996. PMID: 8725271

8

Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.

Zhou XY, van der Spoel A, Rottier R, Hale G, Willemsen R, Berry GT, Strisciuglio P, Morrone A, Zammarchi E, Andria G, d'Azzo A. Zhou XY, et al. Hum Mol Genet. 1996 Dec;5(12):1977-87. doi: 10.1093/hmg/5.12.1977. Hum Mol Genet. 1996. PMID: 8968752

9

Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.

Bonten E, van der Spoel A, Fornerod M, Grosveld G, d'Azzo A. Bonten E, et al. Genes Dev. 1996 Dec 15;10(24):3156-69. doi: 10.1101/gad.10.24.3156. Genes Dev. 1996. PMID: 8985184 Free article.

10

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase.

Hahn CN, del Pilar Martin M, Schröder M, Vanier MT, Hara Y, Suzuki K, Suzuki K, d'Azzo A. Hahn CN, et al. Hum Mol Genet. 1997 Feb;6(2):205-11. doi: 10.1093/hmg/6.2.205. Hum Mol Genet. 1997. PMID: 9063740

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