d'Azzo A - Search Results

1

Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promoter.

Hahn CN, del Pilar Martin M, Zhou XY, Mann LW, d'Azzo A. Hahn CN, et al. Proc Natl Acad Sci U S A. 1998 Dec 8;95(25):14880-5. doi: 10.1073/pnas.95.25.14880. Proc Natl Acad Sci U S A. 1998. PMID: 9843984 Free PMC article.

2

Human lysosomal protective protein. Glycosylation, intracellular transport, and association with beta-galactosidase in the endoplasmic reticulum.

Morreau H, Galjart NJ, Willemsen R, Gillemans N, Zhou XY, d'Azzo A. Morreau H, et al. J Biol Chem. 1992 Sep 5;267(25):17949-56. J Biol Chem. 1992. PMID: 1387645 Free article.

3

A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.

Zhou XY, Galjart NJ, Willemsen R, Gillemans N, Galjaard H, d'Azzo A. Zhou XY, et al. EMBO J. 1991 Dec;10(13):4041-8. doi: 10.1002/j.1460-2075.1991.tb04980.x. EMBO J. 1991. PMID: 1756715 Free PMC article.

4

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

5

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.

6

Insertion of a T next to the donor splice site of intron 1 causes aberrantly spliced mRNA in a case of infantile GM1-gangliosidosis.

Morrone A, Morreau H, Zhou XY, Zammarchi E, Kleijer WJ, Galjaard H, d'Azzo A. Morrone A, et al. Hum Mutat. 1994;3(2):112-20. doi: 10.1002/humu.1380030205. Hum Mutat. 1994. PMID: 8199591

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

Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new patient.

Zammarchi E, Donati MA, Morrone A, Donzelli GP, Zhou XY, d'Azzo A. Zammarchi E, et al. Am J Med Genet. 1996 Aug 23;64(3):453-8. doi: 10.1002/(SICI)1096-8628(19960823)64:3<453::AID-AJMG2>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8862621

9

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

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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