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Literature for peptidase C01.036: cathepsin K

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

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

    2018
  1. Roy,S., Das Chakraborty,S. and Biswas,S.
    Not all pycnodysostosis-related mutants of human cathepsin K are inactive - crystal structure and biochemical studies of an active mutant I249T
    FEBS J (2018) 285, 4265-4280. PubMed  Europe PubMed DOI  M  S
    2. 2017
  2. Song,H.K., Sohn,Y.B., Choi,Y.J., Chung,Y.S. and Jang,J.H.
    A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
    Medicine (Baltimore) (2017) 96, e6367-e6367. PubMed  Europe PubMed DOI  M
    3. 2015
  3. Huang,X., Qi,X., Li,M., Wang,O., Jiang,Y., Xing,X., Hu,Y.Y. and Xia,W.
    A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Chinese origin
    Calcif Tissue Int (2015) 96, 373-378. PubMed  Europe PubMed DOI  M
  4. Xue,Y., Wang,L., Xia,D., Li,Q., Gao,S., Dong,M., Cai,T., Shi,S., He,L., Hu,K., Mao,T. and Duan,X.
    Dental abnormalities caused by novel compound heterozygous CTSK mutations
    J Dent Res (2015) 94, 674-681. PubMed  Europe PubMed DOI  M
    5. 2014
  5. Arman,A., Bereket,A., Coker,A., Kiper,P.O., Guran,T., Ozkan,B., Atay,Z., Akcay,T., Halilo Lu,B., Boduro Lu,K., Alanay,Y. and Turan,S.
    Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
    Orphanet J Rare Dis (2014) 9, 60-60. PubMed  Europe PubMed DOI  M
    6. 2013
  6. Utokpat,P., Panmontha,W., Tongkobpetch,S., Suphapeetiporn,K. and Shotelersuk,V.
    Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis
    Pediatr Int (2013) 55, 651-655. PubMed  Europe PubMed DOI  M
  7. Zheng,H., Zhang,Z., He,J.W., Fu,W.Z. and Zhang,Z.L.
    A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with pyknodysostosis
    Gene (2013) 521, 176-179. PubMed  Europe PubMed DOI  M
    8. 2011
  8. Toral-Lopez,J., Gonzalez-Huerta,L.M., Sosa,B., Orozco,S., Gonzalez,H.P. and Cuevas-Covarrubias,S.A.
    Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K)
    J Investig Med (2011) 59, 277-280. PubMed  Europe PubMed DOI  M
  9. Xue,Y., Cai,T., Shi,S., Wang,W., Zhang,Y., Mao,T. and Duan,X.
    Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011
    Orphanet J Rare Dis (2011) 6, 20-20. PubMed  Europe PubMed DOI  M  V
    10. 2010
  10. Fontanesi,L., Scotti,E., Buttazzoni,L., Dall'Olio,S., Davoli,R. and Russo,V.
    A single nucleotide polymorphism in the porcine cathepsin K (CTSK) gene is associated with back fat thickness and production traits in Italian Duroc pigs
    Mol Biol Rep (2010) 37, 491-495. PubMed  Europe PubMed DOI  M
  11. Khan,B., Ahmed,Z. and Ahmad,W.
    A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis
    J Investig Med (2010) 58, 720-724. PubMed  Europe PubMed DOI  M
    12. 2009
  12. Li,H.Y., Ma,H.W., Wang,H.Q. and Ma,W.H.
    Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis
    J Int Med Res (2009) 37, 264-269. PubMed  Europe PubMed  M
    13. 2007
  13. Schilling,A.F., Mulhausen,C., Lehmann,W., Santer,R., Schinke,T., Rueger,J.M. and Amling,M.
    High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K
    Osteoporos Int (2007) 18, 659-669. PubMed  Europe PubMed DOI  M
    14. 2004
  14. Fratzl-Zelman,N., Valenta,A., Roschger,P., Nader,A., Gelb,B.D., Fratzl,P. and Klaushofer,K.
    Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis
    J Clin Endocrinol Metab (2004) 89, 1538-1547. PubMed  Europe PubMed DOI  M
    15. 2003
  15. Everts,V., Hou,W.S., Rialland,X., Tigchelaar,W., Saftig,P., Bromme,D., Gelb,B.D. and Beertsen,W.
    Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts
    Calcif Tissue Int (2003) 73, 380-386. PubMed  Europe PubMed DOI  M
    16. 2000
  16. Fujita,Y., Nakata,K., Yasui,N., Matsui,Y., Kataoka,E., Hiroshima,K., Shiba,R.I. and Ochi,T.
    Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization
    J Clin Endocrinol Metab (2000) 85, 425-431. PubMed  Europe PubMed DOI  K  M
  17. Haagerup,A., Hertz,J.M., Christensen,M.F., Binderup,H. and Kruse,T.A.
    Cathepsin K gene mutations and 1q21 haplotypes in patients with pycnodysostosis in an outbred population
    Eur J Hum Genet (2000) 8, 431-436. PubMed  Europe PubMed DOI  M
    18. 1999
  18. Hou,W.S., Bromme,D., Zhao,Y., Mehler,E., Dushey,C., Weinstein,H., Miranda,C.S., Fraga,C., Greig,F., Carey,J., Rimoin,D.L., Desnick,R.J. and Gelb,B.D.
    Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis
    J Clin Invest (1999) 103, 731-738. PubMed  Europe PubMed DOI  PMC  EPMC  M
    19. 1996
  19. Gelb,B.D., Shi,G.P., Chapman,H.A. and Desnick,R.J.
    Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
    Science (1996) 273, 1236-1238. PubMed  Europe PubMed  M
  20. Johnson,M.R., Polymeropoulos,M.H., Vos,H.L., Ortiz de Luna,R.I. and Francomano,C.A.
    A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
    Genome Res (1996) 6, 1050-1055. PubMed  Europe PubMed  K  M
    21. 1995
  21. Gelb,B.D., Edelson,J.G. and Desnick,R.J.
    Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping
    Nat Genet (1995) 10, 235-237. PubMed  Europe PubMed DOI  M
  22. Polymeropoulos,M.H., Ortiz de Luna,R.I., Ide,S.E., Torres,R., Rubenstein,J. and Francomano,C.A.
    The gene for pycnodysostosis maps to human chromosome 1cen-q21
    Nat Genet (1995) 10, 238-239. PubMed  Europe PubMed DOI  M
    23. 1985
  23. Everts,V., Aronson,D.C. and Beertsen,W.
    Phagocytosis of bone collagen by osteoclasts in two cases of pycnodysostosis
    Calcif Tissue Int (1985) 37, 25-31. PubMed  Europe PubMed  M

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