Slc10a7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by gag biosynthesis defects

HIGHLIGHTS

• who: Johanne Dubail from the Université, Créteil, FranceIstanbul University have published the research work: SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects, in the Journal: NATURE COMMUNICATIONS NATURE COMMUNICATIONS of 18/Dec/2017
• what: Using a deficient mouse model and patient fibroblasts, the authors demonstrate that SLC10A7 deficiency disrupts GAG biosynthesis and intracellular calcium homoeostasis.

SUMMARY

SLC10A7 is a 10transmembrane-domain transporter located at the plasma_membrane, with a yet unidentified substrate14. Using a deficient mouse model and patient fibroblasts, the authors demonstrate that SLC10A7 . . .

 



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