A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse - PubMed (original) (raw)

doi: 10.1038/ng1603. Epub 2005 Jul 17.

Affiliations

PMID: 16025116
DOI: 10.1038/ng1603

A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse

Isabelle Aubin et al. Nat Genet. 2005 Aug.

Abstract

The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies.

PubMed Disclaimer

Cited by

Sphingolipid metabolism and neutral sphingomyelinases.
Airola MV, Hannun YA. Airola MV, et al. Handb Exp Pharmacol. 2013;(215):57-76. doi: 10.1007/978-3-7091-1368-4_3. Handb Exp Pharmacol. 2013. PMID: 23579449 Free PMC article. Review.
Off-target function of the Sonic hedgehog inhibitor cyclopamine in mediating apoptosis via nitric oxide-dependent neutral sphingomyelinase 2/ceramide induction.
Meyers-Needham M, Lewis JA, Gencer S, Sentelle RD, Saddoughi SA, Clarke CJ, Hannun YA, Norell H, da Palma TM, Nishimura M, Kraveka JM, Khavandgar Z, Murshed M, Cevik MO, Ogretmen B. Meyers-Needham M, et al. Mol Cancer Ther. 2012 May;11(5):1092-102. doi: 10.1158/1535-7163.MCT-11-0705. Epub 2012 Mar 27. Mol Cancer Ther. 2012. PMID: 22452947 Free PMC article.
Neutral Sphingomyelinase 2 Mediates Oxidative Stress Effects on Astrocyte Senescence and Synaptic Plasticity Transcripts.
Zhu Z, Quadri Z, Crivelli SM, Elsherbini A, Zhang L, Tripathi P, Qin H, Roush E, Spassieva SD, Nikolova-Karakashian M, McClintock TS, Bieberich E. Zhu Z, et al. Mol Neurobiol. 2022 May;59(5):3233-3253. doi: 10.1007/s12035-022-02747-0. Epub 2022 Mar 16. Mol Neurobiol. 2022. PMID: 35294731 Free PMC article.
Sphingomyelin degradation is a key factor in dentin and bone mineralization: lessons from the fro/fro mouse. The chemistry and histochemistry of dentin lipids.
Goldberg M, Opsahl S, Aubin I, Septier D, Chaussain-Miller C, Boskey A, Guenet JL. Goldberg M, et al. J Dent Res. 2008 Jan;87(1):9-13. doi: 10.1177/154405910808700103. J Dent Res. 2008. PMID: 18096888 Free PMC article. No abstract available.
Sphingolipid metabolism and its role in the skeletal tissues.
Khavandgar Z, Murshed M. Khavandgar Z, et al. Cell Mol Life Sci. 2015 Mar;72(5):959-69. doi: 10.1007/s00018-014-1778-x. Epub 2014 Nov 26. Cell Mol Life Sci. 2015. PMID: 25424644 Free PMC article. Review.

A deletion in the gene encoding sphingomyelin phosphodiesterase 3 (Smpd3) results in osteogenesis and dentinogenesis imperfecta in the mouse - PubMed (original) (raw)