d'Azzo A - Search Results

1

GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis.

Tessitore A, del P Martin M, Sano R, Ma Y, Mann L, Ingrassia A, Laywell ED, Steindler DA, Hendershot LM, d'Azzo A. Tessitore A, et al. Mol Cell. 2004 Sep 10;15(5):753-66. doi: 10.1016/j.molcel.2004.08.029. Mol Cell. 2004. PMID: 15350219 Free article.

2

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

3

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

4

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.

Rottier RJ, Hahn CN, Mann LW, del Pilar Martin M, Smeyne RJ, Suzuki K, d'Azzo A. Rottier RJ, et al. Hum Mol Genet. 1998 Oct;7(11):1787-94. doi: 10.1093/hmg/7.11.1787. Hum Mol Genet. 1998. PMID: 9736781

5

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.

6

Processing of lysosomal beta-galactosidase. The C-terminal precursor fragment is an essential domain of the mature enzyme.

van der Spoel A, Bonten E, d'Azzo A. van der Spoel A, et al. J Biol Chem. 2000 Apr 7;275(14):10035-40. doi: 10.1074/jbc.275.14.10035. J Biol Chem. 2000. PMID: 10744681 Free article.

7

Functional amelioration of murine galactosialidosis by genetically modified bone marrow hematopoietic progenitor cells.

Leimig T, Mann L, Martin Mdel P, Bonten E, Persons D, Knowles J, Allay JA, Cunningham J, Nienhuis AW, Smeyne R, d'Azzo A. Leimig T, et al. Blood. 2002 May 1;99(9):3169-78. doi: 10.1182/blood.v99.9.3169. Blood. 2002. PMID: 11964280 Free article.

8

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

9

Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor.

Cuervo AM, Mann L, Bonten EJ, d'Azzo A, Dice JF. Cuervo AM, et al. EMBO J. 2003 Jan 2;22(1):47-59. doi: 10.1093/emboj/cdg002. EMBO J. 2003. PMID: 12505983 Free PMC article.

10

Ozz-E3, a muscle-specific ubiquitin ligase, regulates beta-catenin degradation during myogenesis.

Nastasi T, Bongiovanni A, Campos Y, Mann L, Toy JN, Bostrom J, Rottier R, Hahn C, Conaway JW, Harris AJ, D'Azzo A. Nastasi T, et al. Dev Cell. 2004 Feb;6(2):269-82. doi: 10.1016/s1534-5807(04)00020-6. Dev Cell. 2004. PMID: 14960280 Free article.

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