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Neutral Sphingomyelinase (SMPD3) Deficiency Causes a Novel Form of Chondrodysplasia and Dwarfism That Is Rescued by Col2A1-Driven smpd3 Transgene Expression
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 i...
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| Główni autorzy: | , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Investigative Pathology
2007
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1941606/ https://ncbi.nlm.nih.gov/pubmed/17591962 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2007.061285 |
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