Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression.

@article{Stoffel2007NeutralS,
  title={Neutral sphingomyelinase (SMPD3) deficiency causes a novel form of chondrodysplasia and dwarfism that is rescued by Col2A1-driven smpd3 transgene expression.},
  author={W. Stoffel and Britta Jenke and Barbara Holz and Erika Binczek and Robert Heinz G{\"u}nter and Jutta Knifka and Juergen Koebke and Anja Niehoff},
  journal={The American journal of pathology},
  year={2007},
  volume={171 1},
  pages={153-61}
}
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… CONTINUE READING

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