ArticleNature communications2020
Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 65 citations in OpenAlex.
- Loss of Tars induces proteostasis stress and drives HSPC exhaustion through mTORC1 activation.Acta pharmacologica Sinica · 2026Article
- Advances in the etiology of congenital scoliosis: from morphology to spatiotemporal molecular mechanisms (2015-2025).EFORT open reviews · 2026Article
- Semaglutide alleviates osteoarthritis independent of weight loss via GLP-1R-mediated activation of autophagy through AKT/mTOR inhibition.Journal of orthopaedic translation · 2026Article
- mTOR signalling mediates the spinal osteoblast pathotype at the curve apex in adolescent idiopathic scoliosis.Scientific reports · 2026Article
- The notochord: development, disease and stem cell-based modelling.Development (Cambridge, England) · 2026Review
- Yap1 regulates motility and vertebral development and prevents kyphoscoliosis in zebrafish.PLoS genetics · 2026Article
- Validation of ferroptosis in zebrafish as a reliable model for phenotypic studies.Scientific reports · 2026Article
- Temperature and photoperiod stress in zebrafish larvae: impacts on development, gene regulation and PGC migration.Fish physiology and biochemistry · 2025Article
- Advances in the diagnosis and treatment of congenital scoliosis.European journal of medical research · 2025Review
- Article
- Deciphering the etiology of congenital scoliosis: A genetic and epigenetic perspective.World journal of orthopedics · 2025Review
- Spinal scoliosis: insights into developmental mechanisms and animal models.Spine deformity · 2025Review
- Modeling Musculoskeletal Disorders in Zebrafish: Advancements in Muscle and Bone Research.Cells · 2024Review
- Investigating the causal links between inflammatory cytokines and scoliosis through bidirectional Mendelian randomization analysis.JOR spine · 2024Article
- Planar cell polarity zebrafish models of congenital scoliosis reveal underlying defects in notochord morphogenesis.Development (Cambridge, England) · 2024Article
- Antioxidant 1,2,3,4,6-Penta-Molecules (Basel, Switzerland) · 2024Article
- Knockdown of best1 Gene in Zebrafish Caused Abnormal Neuronal and Skeletal Development - A Subtype of Craniovertebral Junction Malformation?Neurospine · 2024Article
- mTOR mutation disrupts larval zebrafish tail fin regeneration via regulating proliferation of blastema cells and mitochondrial functions.Journal of orthopaedic surgery and research · 2024Article
- Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.Nature communications · 2024Article
- Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.Orphanet journal of rare diseases · 2024Review
Corrections and comments
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Authors and funding
25 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital scoliosis (CS) is a complex genetic disorder characterized by vertebral malformations. The precise etiology of CS is not fully defined. Here, we identify that mutation in dual serine/threonine and tyrosine protein kinase (dstyk) lead to CS-like vertebral malformations in zebrafish. We demonstrate that the scoliosis in dstyk mutants is related to the wavy and malformed notochord sheath formation and abnormal axial skeleton segmentation due to dysregulated biogenesis of notochord vacuoles and notochord function. Further studies show that DSTYK is located in late endosomal/lysosomal compartments and is involved in the lysosome biogenesis in mammalian cells. Dstyk knockdown inhibits notochord vacuole and lysosome biogenesis through mTORC1-dependent repression of TFEB nuclear translocation. Inhibition of mTORC1 activity can rescue the defect in notochord vacuole biogenesis and scoliosis in dstyk mutants. Together, our findings reveal a key role of DSTYK in notochord vacuole biogenesis, notochord morphogenesis and spine development through mTORC1/TFEB pathway.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.