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Neutral sphingomyelinase (SMPD3) deficiency disrupts the Golgi secretory pathway and causes growth inhibition

Systemic loss of neutral sphingomyelinase (SMPD3) in mice leads to a novel form of systemic, juvenile hypoplasia (dwarfism). SMPD3 deficiency in mainly two growth regulating cell types contributes to the phenotype, in chondrocytes of skeletal growth zones to skeletal malformation and chondrodysplasi...

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Detalles Bibliográficos
Autores principales: Stoffel, Wilhelm, Hammels, Ina, Jenke, Bitta, Binczek, Erika, Schmidt-Soltau, Inga, Brodesser, Susanne, Schauss, Astrid, Etich, Julia, Heilig, Juliane, Zaucke, Frank
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5260872/
https://www.ncbi.nlm.nih.gov/pubmed/27882938
http://dx.doi.org/10.1038/cddis.2016.385