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Literature for peptidase C01.070: dipeptidyl-peptidase I

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Structure Literature Substrates Pharma

(References are filtered for relevance to Mutation. To remove the filter click here. See explanation.)

    2020
  1. Moura,A.L., Regateiro,F.S., Peres Resende,E., Coimbra Silva,H., Goncalo,M., Todo Bom,A. and Faria,E.
    A new terminal nonsense mutation of the cathepsin C gene in a patient with atypical Papillon-Lefevre Syndrome
    J Investig Allergol Clin Immunol30, 151-153. PubMed  Europe PubMed DOI  M
  2. Shawli,A., Almaghrabi,Y., AlQuhaibi,A.S., Alghamdi,Y. and Aboud,A.M.
    A mutation in cathepsin C gene causing Papillon-Lefevre syndrome in a Saudi patient: a case report
    Cureus12, e6546-e6546. PubMed  Europe PubMed DOI  M
    3. 2019
  3. Lamort,A.S., Hamon,Y., Czaplewski,C., Gieldon,A., Seren,S., Coquet,L., Lecaille,F., Lesner,A., Lalmanach,G., Gauthier,F., Jenne,D. and Korkmaz,B.
    Processing and maturation of cathepsin C zymogen: a biochemical and molecular modeling analysis
    Int J Mol Sci20, PubMed  Europe PubMed DOI  M
  4. Machado,R.A., Cuadra-Zelaya,F.J.M., Martelli-Junior,H., Miranda,R.T., Casarin,R.C.V., Correa,M.G., Nociti,F. and Coletta,R.D.
    Clinical and molecular analysis in Papillon-Lefevre syndrome
    Am J Med Genet A179, 2124-2131. PubMed  Europe PubMed DOI  M
  5. Molitor,A., Prud'homme,T., Miao,Z., Conrad,S., Bloch-Zupan,A., Pichot,A., Hanauer,A., Isidor,B., Bahram,S. and Carapito,R.
    Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis
    J Hum Genet64, 689-694. PubMed  Europe PubMed DOI  M
    6. 2016
  6. Li,X., Jia,L.-F., Zheng,Y., Huang,Y., Qin,M. and Yang,Y.
    Loss of cathepsin C enhances keratinocyte proliferation and inhibits apoptosis
    Sci Bull (Beijing)61, 1107-1114. DOI  K  M
    7. 2015
  7. Alkhiary,Y.M., Jelani,M., Almramhi,M.M., Mohamoud,H.S.A., Al-Rehaili,R., Al-Zahrani,H.S., Serafi,R., Yang,H. and Al-Aama,J.Y.
    Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family
    Saudi J Biol Sci23, 571-576. PubMed  Europe PubMed DOI  M
  8. Ragunatha,S., Ramesh,M., Anupama,P., Kapoor,M. and Bhat,M.
    Papillon-Lefevre syndrome with homozygous nonsense mutation of cathepsin C gene presenting with late-onset periodontitis
    Pediatr Dermatol32, 292-294. PubMed  Europe PubMed DOI  M
  9. Soliman,H., Eldeen,H.G. and Mustafa,M.I.
    A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon-Lefevre syndrome
    Egypt J Med Hum Genet16, 387-392. DOI  M
    10. 2014
  10. Aswath,N., Swamikannu,B., Ramakrishnan,S.N., Shanmugam,R., Thomas,J. and Ramanathan,A.
    Heterozygous Ile453Val codon mutation in exon 7, homozygous single nucleotide polymorphisms in intron 2 and 5 of cathepsin C are associated with Haim-Munk syndrome
    Eur J Dent8, 79-84. PubMed  Europe PubMed DOI  M
  11. Moghaddasian,M., Arab,H., Dadkhah,E., Boostani,H., Babak,A.R. and Abbaszadegan,M.R.
    Protein modeling of cathepsin C mutations found in Papillon-Lefevre syndrome
    Gene538, 182-187. PubMed  Europe PubMed DOI  M
  12. Sorensen,O.E., Clemmensen,S.N., Dahl,S.L., Ostergaard,O., Heegaard,N.H., Glenthoj,A., Nielsen,F.C. and Borregaard,N.
    Papillon-Lefevre syndrome patient reveals species-dependent requirements for neutrophil defenses
    J Clin Invest124, 4539-4548. PubMed  Europe PubMed DOI  M
    13. 2013
  13. Romero-Quintana,J.G., Frias-Castro,L.O., Arambula-Meraz,E., Aguilar-Medina,M., Duenas-Arias,J.E., Melchor-Soto,J.D., Romero-Navarro,J.G. and Ramos-Payan,R.
    Identification of novel mutation in cathepsin C gene causing Papillon-Lefevre Syndrome in Mexican patients
    BMC Med Genet14, 7-7. PubMed  Europe PubMed DOI  M
    14. 2012
  14. Kosem,R., Debeljak,M., Repic Lampret,B., Kansky,A., Battelino,T. and Trebusak Podkrajsek,K.
    Cathepsin C gene 5'-untranslated region mutation in Papillon-Lefevre syndrome
    Dermatology225, 193-203. PubMed  Europe PubMed DOI  M
  15. Wen,X., Wang,X. and Duan,X.
    High immunoglobulin E in a Chinese Papillon-Lefevre syndrome patient with novel compound mutations of cathepsin C
    J Dermatol39, 664-665. PubMed  Europe PubMed DOI  M
    16. 2010
  16. Kurban,M., Cheng,T., Wajid,M., Kiuru,M., Shimomura,Y. and Christiano,A.M.
    A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome
    J Eur Acad Dermatol Venereol24, 967-969. PubMed  Europe PubMed DOI  M
  17. Pahwa,P., Lamba,A.K., Faraz,F. and Tandon,S.
    Haim-Munk syndrome
    J Indian Soc Periodontol14, 201-203. PubMed  Europe PubMed DOI  M
  18. Pallos,D., Acevedo,A.C., Mestrinho,H.D., Cordeiro,I. and Hart,T.C.
    Novel cathepsin C mutation in a Brazilian family with Papillon-Lefevre syndrome: case report and mutation update
    J Dent Child (Chic)77, 36-41. PubMed  Europe PubMed  M
  19. Rai,R., Thiagarajan,S., Mohandas,S., Natarajan,K., Shanmuga Sekar,C. and Ramalingam,S.
    Haim Munk syndrome and Papillon Lefevre syndrome - allelic mutations in cathepsin C with variation in phenotype
    Int J Dermatol49, 541-543. PubMed  Europe PubMed DOI  M
    20. 2009
  20. Kurban,M., Wajid,M., Shimomura,Y., Bahhady,R., Kibbi,A.G. and Christiano,A.M.
    Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefevre syndrome
    Dermatology219, 289-294. PubMed  Europe PubMed DOI  M
  21. Ochiai,T., Nakano,H., Rokunohe,D., Akasaka,E., Toyomaki,Y., Mitsuhashi,Y. and Sawamura,D.
    Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefevre syndrome: implications for understanding the genotype/phenotype relationship
    J Dermatol Sci53, 73-75. PubMed  Europe PubMed DOI  M
    22. 2008
  22. Janjua,S.A., Iftikhar,N., Hussain,I. and Khachemoune,A.
    Dermatologic, periodontal, and skeletal manifestations of Haim-Munk syndrome in two siblings
    J Am Acad Dermatol58, 339-344. PubMed  Europe PubMed DOI  M  V
  23. Noack,B., Gorgens,H., Schacher,B., Puklo,M., Eickholz,P., Hoffmann,T. and Schackert,H.K.
    Functional cathepsin C mutations cause different Papillon-Lefevre syndrome phenotypes
    J Clin Periodontol35, 311-316. PubMed  Europe PubMed DOI  M
  24. Noack,B., Gorgens,H., Hempel,U., Fanghanel,J., Hoffmann,T., Ziegler,A. and Schackert,H.K.
    Cathepsin C gene variants in aggressive periodontitis
    J Dent Res87, 958-963. PubMed  Europe PubMed DOI  M
    25. 2007
  25. Yang,Y., Bai,X., Liu,H., Li,L., Cao,C. and Ge,L.
    Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefevre syndrome
    J Dent Res86, 735-738. PubMed  Europe PubMed DOI  M
    26. 2006
  26. [YEAR:12-1-2006]Meade,J.L., de Wynter,E.A., Brett,P., Sharif,S.M., Woods,C.G., Markham,A.F. and Cook,G.P.
    A family with Papillon-Lefevre syndrome reveals a requirement for cathepsin C in granzyme B activation and NK cell cytolytic activity
    Blood107, 3665-3668. PubMed  Europe PubMed DOI  M
  27. Wani,A.A., Devkar,N., Patole,M.S. and Shouche,Y.S.
    Description of two new cathepsin C gene mutations in patients with Papillon-Lefevre syndrome
    J Periodontol77, 233-237. PubMed  Europe PubMed DOI  M
  28. Yang,Y., Bai,X.W., Liu,H.S., Cao,C.F. and Ge,L.H.
    [Novel mutations of cathepsin C gene in two Chinese patients with Papillon-Lefevre syndrome]
    Zhonghua Kou Qiang Yi Xue Za Zhi41, 602-605. PubMed  Europe PubMed  M
    29. 2005
  29. Cury,V.F., Gomez,R.S., Costa,J.E., Friedman,E., Boson,W. and De Marco,L.
    A homozygous cathepsin C mutation associated with Haim-Munk syndrome
    Br J Dermatol152, 353-356. PubMed  Europe PubMed DOI  M
    30. 2004
  30. [YEAR:15-12-2004]Pham,C.T., Ivanovich,J.L., Raptis,S.Z., Zehnbauer,B. and Ley,T.J.
    Papillon-Lefevre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans
    J Immunol173, 7277-7281. PubMed  Europe PubMed  M
    31. 2001
  31. Allende,L.M., Garcia-Perez,M.A., Moreno,A., Corell,A., Carasol,M., Martinez-Canut,P. and Arnaiz-Villena,A.
    Cathepsin C gene: first compound heterozygous patient with Papillon-Lefevre syndrome and a novel symptomless mutation
    Hum Mutat17, 152-153. PubMed  Europe PubMed DOI  M
  32. Nakano,A., Nomura,K., Nakano,H., Ono,Y., LaForgia,S., Pulkkinen,L., Hashimoto,I. and Uitto,J.
    Papillon-Lefevre syndrome: mutations and polymorphisms in the cathepsin C gene
    J Invest Dermatol116, 339-343. PubMed  Europe PubMed DOI  M
  33. Zhang,Y., Lundgren,T., Renvert,S., Tatakis,D.N., Firatli,E., Uygur,C., Hart,P.S., Gorry,M.C., Marks,J.J. and Hart,T.C.
    Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patients
    J Med Genet38, 96-101. PubMed  Europe PubMed  M

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