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Article

Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.

Science (New York, N.Y.) - 30 Aug 1996

Gelb B D, Shi G P, Chapman H A, Desnick R J

Abstract excerpt

Pycnodysostosis, an autosomal recessive osteochondrodysplasia characterized by osteosclerosis and short stature, maps to chromosome 1q21. Cathepsin K, a cysteine protease gene that is highly expressed in osteoclasts, localized to the pycnodysostosis region. Nonsense, missense, and stop codon mutations in the gene encoding cathepsin K were identified in patients. Transient expression of complementary DNA...

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Share to Amino Acid Sequence
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 1

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Source

Identifiers

PMID: 8703060
DOI: 10.1126/science.273.5279.1236

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.PMID 8703060Read ↗

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.Semantic proximity Read ↗

Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease.Semantic proximity Read ↗

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Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.Semantic proximity Read ↗

Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.Semantic proximity Read ↗

Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).Semantic proximity Read ↗

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.Semantic proximity Read ↗

Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescenceSemantic proximity Read ↗

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Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.Semantic proximity Read ↗

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