Abstract |
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.
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Authors | Isabelle Aubin, Carolyn P Adams, Sibylle Opsahl, Dominique Septier, Colin E Bishop, Nathalie Auge, Robert Salvayre, Anne Negre-Salvayre, Michel Goldberg, Jean-Louis Guénet, Christophe Poirier |
Journal | Nature genetics
(Nat Genet)
Vol. 37
Issue 8
Pg. 803-5
(Aug 2005)
ISSN: 1061-4036 [Print] United States |
PMID | 16025116
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Smpd3 protein, mouse
- Sphingomyelin Phosphodiesterase
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Topics |
- Animals
- Dentinogenesis Imperfecta
(enzymology, genetics)
- Gene Deletion
- Mice
- Mice, Mutant Strains
- Mutation
- Osteogenesis Imperfecta
(enzymology, genetics)
- Sphingomyelin Phosphodiesterase
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