| 1997 |
CTSK (cathepsin K) was mapped to chromosome 1q21, spans ~12.1 kb, contains eight exons and seven introns, and has a single transcriptional start site 49 bp upstream of the initiator Met codon; the 5' flanking region lacks canonical TATA and CAAT boxes, suggesting a non-canonical promoter mechanism for osteoclast-selective expression. |
Fluorescence in situ hybridization (FISH), PCR on genomic DNA, ribonuclease protection assay, 5' RACE, P1 genomic clone isolation |
Genomics |
High |
9143491
|
| 1999 |
Loss-of-function mutations in CTSK (a premature stop codon K52X and a missense G79E) result in virtually absent cathepsin K protein in affected individuals and cause pycnodysostosis, an autosomal recessive osteosclerotic skeletal dysplasia; heterozygous carriers with 50-80% reduced protein levels show no phenotype, demonstrating that complete absence—not partial reduction—of cathepsin K is required for disease. |
DNA sequencing of CTSK gene, Western blot protein quantification in patient-derived cells |
Journal of bone and mineral research |
High |
10491211
|
| 1999 |
The mouse cathepsin K gene (Ctsk) spans 10.1 kb with eight exons and seven introns, and is located approximately 4.5 kb downstream of the Arnt gene on mouse chromosome 3, with the genomic structure conserved between human and mouse. |
Genomic clone isolation, sequence analysis, chromosomal mapping |
Matrix biology |
Medium |
10372556
|
| 2005 |
ARNT transcripts can read through the intergenic region and extend into CTSK as far as CTSK intron 3 (~3.7 kb downstream of the end of the longest previously described ARNT mRNA), potentially interfering with CTSK expression; novel CTSK transcripts with alternate 5' splicing and a cryptic upstream promoter were also identified. |
RT-PCR overlapping ARNT 3' end and CTSK 5' end, quantitative RT-PCR, EST sequence analysis |
Comparative and functional genomics |
Medium |
18629217
|
| 2007 |
Nine novel CTSK missense mutations cause pycnodysostosis; the L7P mutation within the predicted hydrophobic signal peptide domain significantly reduced cathepsin K protein expression in transfected COS-7 cells, indicating the mutation disrupts targeting and translocation of the nascent lysosomal protein across the ER membrane; all six novel missense mutations were predicted to cause incorrect protein folding based on 3D structural modeling. |
Western blot of COS-7 cells transfected with mutant CTSK, 3D structural modeling |
Human mutation |
Medium |
17397052
|
| 2012 |
Ctsk knockout (Ctsk-/-) mice show significantly delayed OA progression in a joint destabilization model, with reduced MMP-13 and ADAMTS-5 expression in chondrocytes and synovial cells, demonstrating that cathepsin K plays a direct role in early-to-intermediate osteoarthritis development, likely through regulating downstream matrix metalloproteinase expression. |
Ctsk-/- knockout mouse model, joint destabilization surgery, histomorphometry, immunohistochemistry for CTK/MMP-13/ADAMTS-5/TRAP |
Arthritis and rheumatism |
High |
21968827
|
| 2015 |
The CTSK missense mutation Y283C does not affect mRNA or protein levels of overexpressed CTSK in COS-7 cells but significantly reduces CTSK enzyme activity; 3D structural modeling indicates loss of the hydroxybenzene residue disrupts the hydrogen network and affects self-cleavage of the enzyme. These mutations cause thickened and softened cementum with cementocyte accumulation and disorganized alveolar bone structure in affected patients. |
COS-7 transfection, CTSK enzyme activity assay, RT-PCR, western blot, 3D structure modeling, histological staining (H&E, toluidine blue), atomic force microscopy, micro-CT |
Journal of dental research |
High |
25731711
|
| 2018 |
Ctsk-/- mice undergoing destabilization of the medial meniscus (DMM) show delayed subchondral and calcified cartilage remodeling by osteoclasts and chondroclasts; Ctsk-/- mice have fewer growth plate-derived chondroclasts than WT during OA, suggesting cathepsin K differentially regulates chondroclastogenesis. PCR arrays of laser-captured osteoclasts identified differential expression of Atp6v0d2, Tnfrsf11a, Ca2, Calcr, Ccr1, Gpr68, Itgb3, Nfatc1, and Syk between WT and Ctsk-/- mice. |
Ctsk-/- knockout mouse model, DMM surgery, histomorphometry, TRAP staining, laser capture microdissection followed by targeted PCR arrays |
Journal of cellular physiology |
High |
29781506
|
| 2019 |
Ctsk inhibition by adeno-associated virus (AAV) knockdown reduces TLR9 signaling, autophagy proteins (TFEB and LC3), and inflammatory cytokines in a periodontitis-with-RA mouse model; in vitro, Ctsk inhibition suppresses TLR9 downstream signaling and autophagy-related proteins in macrophages stimulated by CpG ODN (TLR9 agonist), placing Ctsk upstream of TLR9-mediated autophagy. |
AAV-mediated CTSK knockdown in vivo, siRNA knockdown in macrophages, micro-CT, IHC, western blot, qRT-PCR, immunofluorescence |
Cell proliferation |
Medium |
31737959
|
| 2019 |
Inhibition of Ctsk with BML-244 reduces TLR4 and TLR9 expression in vivo and specifically suppresses cytokine production in response to TLR9 engagement in vitro in a periodontitis-RA comorbidity model, confirming Ctsk as a mediator of TLR9 pathway signaling. |
Pharmacological Ctsk inhibition (BML-244) in DBA/1 mouse model, in vitro cytokine assays, bone erosion measurement |
Journal of clinical periodontology |
Medium |
30636333
|
| 2020 |
RUNX2 promotes osteoclast differentiation and bone resorption through the AKT/NFATc1/CTSK axis: wild-type RUNX2 increases mTORC2 activity, which specifically phosphorylates AKT at Ser473, promoting NFATc1 nuclear translocation and upregulating CTSK expression; AKT inhibition abrogates osteoclast formation, while constitutively activated AKT rescues differentiation impaired by mutant RUNX2. |
Stable RAW264.7 cell lines expressing WT or mutant RUNX2, F-actin ring formation assay, bone resorption assay, western blot for mTORC2/AKT/NFATc1/CTSK, AKT inhibition and constitutively active AKT rescue experiments |
Calcified tissue international |
High |
32008052
|
| 2022 |
Loss of Trp53 and Rb1 in Ctsk-expressing cells drives osteosarcoma progression via elevated YAP expression and activity; YAP/TEAD1 complex binds the Glut1 promoter to upregulate glucose transporter 1 expression, increasing glucose metabolism; ablation of YAP signaling inhibited energy metabolism and delayed osteosarcoma progression in the Ctsk-Cre;Trp53f/f/Rb1f/f mouse model. |
Ctsk-Cre conditional knockout mouse model, ChIP/promoter binding assay (YAP/TEAD1 to Glut1 promoter), YAP ablation experiments, micro-CT, mechanistic Western blot |
MedComm |
Medium |
35615117
|
| 2023 |
Cathepsin K (CTSK)-positive periosteal stem cells (PSCs) in the orbital periosteum coexpress CD200 and colocalize with osteocalcin in the inner periosteal layer, demonstrate multipotent differentiation capacity, and are mobilized after orbital fracture; transcriptome sequencing revealed 3613 differentially expressed genes between CTSK+ PSCs and bone marrow MSCs, with PSCs showing enriched pathways for intramembranous osteogenesis. |
Immunofluorescence, immunohistochemistry, flow cytometry, transcriptome sequencing, multidirectional differentiation assays, GO analysis |
Investigative ophthalmology & visual science |
Medium |
37639249
|
| 2023 |
Sfrp4 is expressed in Ctsk-lineage periosteal stem cells (PSCs) and its deletion decreases the PSC pool, impairs clonal multipotency for osteoblast and chondrocyte differentiation, hampers periosteal response to bone injury, and abolishes PTH-dependent increases in PSC number and cortical bone formation; bulk RNA sequencing showed Sfrp4 deletion downregulates pathways for skeletal development and bone mineralization in Ctsk-lineage cells. |
Sfrp4 global deletion mouse model, flow cytometry for PSC quantification, clonal differentiation assays, bone organoid formation, periosteal injury model, PTH treatment, bulk RNA sequencing of Ctsk-lineage cells |
PNAS |
High |
37931101
|
| 2024 |
METTL3-mediated m6A modification of Ctsk mRNA regulates Ctsk+ calvarial stem cell (CSC) function; depletion of Mettl3 in Ctsk+ lineage cells delayed suture formation, decreased mineralization, impaired calvarial bone formation, and reduced Hedgehog (Hh) signaling; restoration of Hh signaling by genetic or pharmacological means partially rescued the abnormality, placing METTL3/m6A/Ctsk upstream of Hh signaling in CSCs. |
Ctsk-lineage-specific Mettl3 conditional knockout, MeRIP-seq, RNA-seq, micro-CT, histomorphometry, genetic and pharmacological Hh pathway rescue (Sufu crossing, SAG21 administration) |
Journal of dental research |
High |
38752256
|
| 2024 |
T-2 toxin induces cartilage extracellular matrix degradation via METTL3-mediated m6A methylation of Ctsk mRNA; silencing METTL3 increases Ctsk expression and worsens ECM degradation, while increasing m6A methylation via dietary methionine supplementation mitigates cartilage damage; silencing Ctsk itself also aggravated HT-2 toxin-induced ECM degradation, defining the METTL3/m6A/Ctsk axis in cartilage homeostasis. |
MeRIP sequencing, RNA sequencing, siRNA knockdown of METTL3 and Ctsk, in vivo methionine supplementation, ECM degradation assays |
International immunopharmacology |
High |
39426235
|
| 2025 |
Loss of CTSK in trabecular meshwork (TM) cells (siRNA knockdown) significantly disrupts collagen biogenesis and ECM homeostasis, increases intracellular calcium levels, and activates PRKD1, which enhances actin polymerization through the LIMK1/SSH1/cofilin pathway and promotes focal adhesion maturation; RhoQ and myosin motor proteins are significantly downregulated, indicating altered mechanotransduction. |
siRNA-mediated CTSK knockdown in human TM cells, unbiased proteomics, calcium level measurement, pathway analysis |
bioRxiv (preprint)preprint |
Medium |
bio_10.1101_2025.02.10.637394
|
| 2025 |
Ctsk+ osteoclasts regulate condylar morphogenesis through HIF-1α-dependent lysosomal biogenesis via the TSC2-mTORC1-TFEB axis; conditional knockout of HIF-1α in Ctsk+ cells causes disorganized ruffled borders and defective lysosomal biogenesis in osteoclasts, leading to cartilage accumulation at early timepoints and paradoxical cartilage reduction with accelerated subchondral mineralization at later timepoints. |
DTR transgenic mouse ablation of Ctsk+ cells, HIF-1α conditional knockout in Ctsk+ cells (HIF-1α∆ctsk-cre), histomorphometry, immunohistochemistry, electron microscopy of ruffled borders and lysosomes, mechanistic pathway analysis |
Journal of dental research |
High |
41108121
|
| 2025 |
Mycl, a MYC family transcription factor activated downstream of Sgk1-phosphorylated Stat3 (at Tyr705), directly binds the Ctsk promoter to regulate its transcription during osteoclastogenesis; Mycl overexpression rescues osteoclast differentiation impaired by Sgk1 inhibition, defining the Sgk1-Stat3-Mycl-Ctsk signaling axis. |
Sgk1 inhibitor (GSK650394) treatment, Stat3 phosphorylation western blot, Mycl overexpression rescue experiments, ChIP/promoter binding assay (Mycl to Ctsk promoter), in vivo micro-CT of trabecular bone mass |
Scientific reports |
High |
41266497
|
| 2026 |
Tucatinib directly binds and inhibits CTSK (confirmed by microscale thermophoresis, molecular docking, and CTSK activity assays) and also suppresses NFATc1-driven osteoclast differentiation by inhibiting DRP1 phosphorylation at Ser616, reducing mitochondrial ROS and stabilizing mitochondrial fission/fusion dynamics, thereby defining a dual DRP1/NFATc1/CTSK axis in osteoclastic bone resorption. |
Microscale thermophoresis (direct binding), molecular docking, CTSK enzymatic activity assay, DRP1 phosphorylation western blot, mtROS measurement, ovariectomized mouse model, bone marrow-derived monocyte/macrophage differentiation assays |
Biochemical pharmacology |
High |
41974330
|
| 2025 |
Liquiritin upregulates CTSK expression in tumor-associated macrophages (TAMs), causing CXCL1 to colocalize with lysosomes and undergo accelerated lysosomal degradation; this CTSK-mediated lysosomal degradation of CXCL1 suppresses TAM-induced breast cancer neoangiogenesis in vitro and in vivo. |
LC-MS screening, CXCL1 ELISA, lysosome/CXCL1 colocalization imaging, CTSK expression analysis, CXCL1 overexpression rescue, zebrafish xenotransplantation, murine xenograft model |
Phytomedicine |
Medium |
41072283
|
| 2014 |
CTSK selective inhibitor (CKSI) treatment in high-fat diet obese mice reduces adipose tissue weight gain, improves insulin sensitivity, and significantly downregulates PPARγ and C/EBPα expression—key transcription factors for adipogenic differentiation—demonstrating that CTSK promotes adipocyte differentiation through regulation of these transcription factors. |
Pharmacological CTSK inhibition in HFD-induced obese C57BL/6 mice, adipose tissue weight measurement, HOMA index, histological analysis of adipocyte size, western blot/qPCR for PPARγ and C/EBPα |
Endocrine journal |
Medium |
25410008
|