ArticleThe American journal of pathology2007
Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression.
Article in The American journal of pathology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 52 citations in OpenAlex.
- Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome.JBMR plus · 2025Article
- The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients.Scientific reports · 2025Article
- Discovery of Orally Bioavailable and Brain-Penetrable Prodrugs of the Potent nSMase2 Inhibitor DPTIP.Journal of medicinal chemistry · 2022Article
- Ceramide and Sphingosine 1-Phosphate in Liver Diseases.Molecules and cells · 2020Review
- How To Build a Bone: PHOSPHO1, Biomineralization, and Beyond.JBMR plus · 2019Review
- Mechanism of Bone Mineralization.Cold Spring Harbor perspectives in medicine · 2018Review
- SMPD3 deficiency perturbs neuronal proteostasis and causes progressive cognitive impairment.Cell death & disease · 2018Article
- Increased liver tumor formation in neutral sphingomyelinase-2-deficient mice.Journal of lipid research · 2018Article
- Neutral sphingomyelinase (SMPD3) deficiency disrupts the Golgi secretory pathway and causes growth inhibition.Cell death & disease · 2016Article
- Smpd3 Expression in both Chondrocytes and Osteoblasts Is Required for Normal Endochondral Bone Development.Molecular and cellular biology · 2016Article
- Sphingolipid metabolism and its role in the skeletal tissues.Cellular and molecular life sciences : CMLS · 2015Review
- Hyaluronan synthase-2 upregulation protects smpd3-deficient fibroblasts against cell death induced by nutrient deprivation, but not against apoptosis evoked by oxidized LDL.Redox biology · 2015Article
- Choline kinase beta is required for normal endochondral bone formation.Biochimica et biophysica acta · 2014Article
- Primary cilia in stem cells and neural progenitors are regulated by neutral sphingomyelinase 2 and ceramide.Molecular biology of the cell · 2014Article
- Bone morphogenic protein (BMP) signaling up-regulates neutral sphingomyelinase 2 to suppress chondrocyte maturation via the Akt protein signaling pathway as a negative feedback mechanism.The Journal of biological chemistry · 2014Article
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- Phospholipases of mineralization competent cells and matrix vesicles: roles in physiological and pathological mineralizations.International journal of molecular sciences · 2013Article
- Sphingolipid metabolism and neutral sphingomyelinases.Handbook of experimental pharmacology · 2013Review
- Article
- The roles of neutral sphingomyelinases in neurological pathologies.Neurochemical research · 2012Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neutral sphingomyelinase SMPD3 (nSMase2), a sphingomyelin phosphodiesterase, resides in the Golgi apparatus and is ubiquitously expressed. Gene ablation of smpd3 causes a generalized prolongation of the cell cycle that leads to late embryonic and juvenile hypoplasia because of the SMPD3 deficiency in hypothalamic neurosecretory neurons. We show here that this novel form of combined pituitary hormone deficiency is characterized by the perturbation of the hypothalamus-pituitary growth axis, associated with retarded chondrocyte development and enchondral ossification in the epiphyseal growth plate. To study the contribution by combined pituitary hormone deficiency and by the local SMPD3 deficiency in the epiphyseal growth plate to the skeletal phenotype, we introduced the full-length smpd3 cDNA transgene under the control of the chondrocyte-specific promoter Col2a1. A complete rescue of the smpd3(-/-) mouse from severe short-limbed skeletal dysplasia was achieved. The smpd3(-/-) mouse shares its dwarf and chondrodysplasia phenotype with the most common form of human achondrodysplasia, linked to the fibroblast-growth-factor receptor 3 locus, not linked to deficits in the hypothalamic-pituitary epiphyseal growth plate axis. The rescue of smpd3 in vivo has implications for future research into dwarfism and, particularly, growth and development of the skeletal system and for current screening and future treatment of combined dwarfism and chondrodysplasia.
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