Details

Autor(en) / Beteiligte

• Goldberg, Michel
• Poirier, Christophe
• Auge, Nathalie
• Guénet, Jean-Louis
• Opsahl, Sibylle
• Aubin, Isabelle
• Negre-Salvayre, Anne
• Adams, Carolyn P
• Bishop, Colin E
• Septier, Dominique
• Salvayre, Robert

Titel

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

Ist Teil von

• Nature genetics, 2005-08, Vol.37 (8), p.803-805

Ort / Verlag

United States: Nature Publishing Group

Erscheinungsjahr

2005

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.