| 1 | CTSA, NEU1
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| Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization.
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| Bonten EJ, Campos Y, Zaitsev V, Nourse A, Waddell B, Lewis W, Taylor G, d'Azzo A.
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| J Biol Chem 284(41):28430-41. Epub 2009 Aug 7.
2009
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| 2 | CTSA
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| New mutations in two Dutch patients with early infantile galactosialidosis.
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| Groener J, Maaswinkel-Mooy P, Smit V, van der Hoeven M, Bakker J, Campos Y, d'Azzo A.
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| Mol Genet Metab 78(3):222-8.
2003
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| 3 | CTSA
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| Cathepsin A regulates chaperone-mediated autophagy through cleavage of the lysosomal receptor.
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| Cuervo AM, Mann L, Bonten EJ, d'Azzo A, Dice JF.
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| EMBO J 22(1):47-59.
2003
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| 4 | GLB1, MPS4B, CTSA
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| Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
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| Callahan JW.
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| Biochim Biophys Acta 1455(2-3):85-103. Review 1999
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| 5 | GSL, CTSA
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| The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis.
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| Rudenko G, Bonten E, Hol WG, d'Azzo A.
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| Proc Natl Acad Sci U S A 95(2):621-5. 1998
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| 6 | GSL, CTSA
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| Molecular pathology of galactosialidosis in a patient affected with two new frameshift mutations in the cathepsin A/protective protein gene.
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| Richard C, et al.
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| Hum Mutat 11 : 461-469. 1998
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| 7 | CTSA
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| Protective protein/cathepsin A loss in cultured cells derived from an early-infantile form of galactosialidosis patients homozygous for the A1184-G transition (Y395C mutation).
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| Itoh K, et al.
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| Biochem Biophys Res Commun 247 : 12-17. 1998
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| 8 | CTSA, NEU1
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| Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A.
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| van der Spoel A, Bonten E, d'Azzo A.
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| EMBO J 17(6):1588-97.
1998
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| 9 | CTSA, PLTP
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| A human protective protein gene partially overlaps the gene encoding phospholipid transfer protein on the complementary strand of DNA.
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| Shimmoto M, et al.
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| Biochem Biophys Res Commun 220 : 802-806. 1996
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| 10 | GSL, CTSA
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| Molecular and biochemical analysis of protective protein/cathepsin A mutations : correlation with clinical severity in galactosialidosis.
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| Zhou XY, et al.
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| Hum Mol Genet 5 : 1977-1987. 1996
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| 11 | MODY1, ADA, CTSA
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| A genetic map of chromosome 20q12-q13.1 : multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus.
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| Rothschild CB, et al.
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| Am J Hum Genet 52 : 110-123. 1993
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| 12 | GSL, CTSA
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| Protective protein gene mutations in galactosialidosis.
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| Shimmoto M, et al.
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| J Clin Invest 91 : 2393-2398. 1993
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| 13 | CTSA
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| Common point mutations in four patients with the late infantile form of galactosialidosis.
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| Zhou XY, et al.
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| Am J Hum Genet 53 : 966. 1993
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| 14 | CTSA
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| Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20.
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| Halal F, et al.
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| Am J Med Genet 43 : 576-579. 1992
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| 15 | CTSA
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| The gene encoding human protective protein (PPGB) is on chromosome 20.
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| Wiegant J, et al.
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| Genomics 10 : 345-349. 1991
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| 16 | CTSA
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| A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.
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| Zhou XY, et al.
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| EMBO J 10 : 4041-4048. 1991
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| 17 | CTSA
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| Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function.
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| Galjart NJ, Morreau H, Willemsen R, Gillemans N, Bonten EJ, d'Azzo A.
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| J Biol Chem 266(22):14754-62.
1991
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| 18 | CTSA
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| Galactosialidosis: simultaneous deficiency of esterase, carboxy-terminal deamidase and acid carboxypeptidase activities.
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| Kase R, et al.
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| Biochem Biophys Res Commun 172 : 1175-1179. 1990
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| 19 | CTSA
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| The presence of a reduced amount of 32-kd protective protein is a distinct biochemical finding in late infantile galactosialidosis.
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| Strisciuglio P, et al.
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| Hum Genet 80 : 304-306. 1988
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| 20 | CTSA
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| Expression of cDNA encoding the human protective protein associated with lysosomal beta-galactosidase and neuraminidase : homology to yeast proteases.
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| Galjart NJ, et al.
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| Cell 54 : 755-764. 1988
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| 21 | CTSA
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| Galactosialidosis : a direct evidence that A 46-kilodalton protein restores deficient enzyme activities in fibroblasts.
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| Nanba E, et al.
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| Biochem Biophys Res Commun 144 : 138-142. 1987
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| 22 | NEU1, GSL, CTSA
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| Sialidosis and galactosialidosis: chromosomal assignment of two genes associated with neuraminidase-deficiency disorders.
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| Mueller OT, et al.
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| Proc Natl Acad Sci U S A 83 : 1817-1821. 1986
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| 23 | CTSA
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| The chromosomal localization of human beta-galactosidase revisited : a locus for beta-galactosidase on human chromosome 3 and for its protective protein on human chromosome 22.
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| Sips HJ, et al.
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| Hum Genet 69 : 340-344. 1985
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| 24 | CTSA
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| Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
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| D'Azzo A, et al.
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| Proc Natl Acad Sci U S A 79 : 4535-4539. 1982
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| 25 | CTSA
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| Assignment of structural beta-galactosidase loci to human chromosomes 3 and 22.
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| de Wit J, et al.
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| Hum Genet 51 : 259-267. 1979
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| 26 | CTSA
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| Regional localization of a §-galactosidase locus on human chromosome 22.
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| de Wit J, et al.
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| Somatic Cell Genet 3 : 351-363. 1977
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| 27 | CTSA
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| Macular cherry-red spot, corneal clouding, and beta-galactosidase deficiency : clinical, biochemical, and electron microscopic study of a new autosomal recessive storage disease.
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| Goldberg MF, et al.
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| Arch Intern Med 128 : 387-398. 1971
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