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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Bibliografski detalji
Glavni autori: Stoffel, Wilhelm, Jenke, Britta, Holz, Barbara, Binczek, Erika, Günter, Robert Heinz, Knifka, Jutta, Koebke, Jürgen, Niehoff, Anja
Format: Artigo
Jezik:Inglês
Izdano: American Society for Investigative Pathology 2007
Teme:
Regular Articles
Online pristup: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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