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Literature summary for 3.4.14.1 extracted from

  • Hamon, Y.; Legowska, M.; Fergelot, P.; Dallet-Choisy, S.; Newell, L.; Vanderlynden, L.; Kord Valeshabad, A.; Acrich, K.; Kord, H.; Charalampos, T.; Morice-Picard, F.; Surplice, I.; Zoidakis, J.; David, K.; Vlahou, A.; Ragunatha, S.; Nagy, N.; Farkas, K.; Szell, M.; Goizet, C.; Schacher, B.; Battino, M.
    Analysis of urinary cathepsin C for diagnosing Papillon-Lefevre syndrome (2016), FEBS J., 283, 498-509 .
    View publication on PubMed
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Application

Application Comment Organism
medicine assay for enzymic activity in urinary samples to diagnose for Papillon-Lefevre syndrome PLS, which is caused by mutations in both alleles of the cathepsin C. The absence of active CatC and its proform in the urine is a strong and reliable indicator for PLS and useful in the early diagnosis of PLS. In contrast, 100% of urine samples from control subjects of any age and gender contained measurable amounts of active CatC. Nonsense, frameshift and missense mutations all result in a total absence of CatC or CatC fragments in the urine of PLS patients Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P53634
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Synonyms

Synonyms Comment Organism
CATC
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 Homo sapiens