Cleaved-CTSA (R326) Antibody

1. The usefulness of modified U1 snRNA for rescue from exon 7 skipping caused by the IVS7 +3a>g mutation of the CTSA gene. PMID: 30010039
2. The gene signature of OPA1, CTSA, NDUFA1, STK10 and PRDX1 was able to identify patients post-implant with a sensitivity of 91% and a specificity of 86% in discrimination between post-implant group and healthy controls. PMID: 27177495
3. Galactosialidosis is a rare lysosomal storage disease caused by a combined deficiency of GM1 beta-galactosidase (beta-gal) and neuraminidase secondary to a defect of a lysosomal enzyme protective protein/cathepsin A (PPCA) and mutation in CTSA gene. PMID: 26259553
4. Case Report: galactosialidosis with novel mutations of CTSA gene diagnosed using placental pathology. PMID: 25075748
5. We identified compound heterozygous mutations in the CTSA gene, responsible for causing galactosialidosis PMID: 24769197
6. correct nomenclature of mutations for this gene is discussed; clinical and mutational analyses of 4 cases with rare infantile form of galactosialidosis; identified 3 novel nucleotide changes, 2 resulting in missense mutations and the third, resulting in the p.Gln406* stop codon; complexity of the clinical phenotypes in GS reflects dual functions of PPCA/CTSA PMID: 23915561
7. Catalytic function, tissue distribution and substrates of cathepsin A are discussed as well as inhibition of cathepsin A as an emerging strategy for the treatment of heart failure. PMID: 23495688
8. The Cathepsin C releases the glycosidases from complexes formed with cathepsin A, and reinstates their activity. PMID: 22532132
9. Our data suggest that CatA is involved in the C-terminal fine-tuning of antigenic T cell epitopes in human APC. PMID: 19954752
10. mutations in early infantile galactosialidosis in two Dutch patients PMID: 12649068
11. Increased activity of beta-galactosidase in the peritoneal fluid is associated with gynecologic cancers and pelvic inflammatory disease PMID: 15785934
12. effects of GLB1, PPCA and NEU1 gene mutations on elastogenesis in skin fibroblasts PMID: 16538002
13. Results describe the hydrodynamic properties of PPCA, NEU1, and a complex of the two proteins and identified multiple binding sites on both proteins. PMID: 19666471

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HGNC: 9251

OMIM: 256540

KEGG: hsa:5476

STRING: 9606.ENSP00000361562

UniGene: Hs.609336