Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain.

Abstract

Ablation of the murine Slc5a3 gene results in severe myo-inositol (Ins) deficiency and congenital central apnea due to abnormal respiratory rhythmogenesis. The lethal knockout phenotype may be rescued by supplementing the maternal drinking water with 1% Ins. In order to test the hypothesis that Ins deficiency leads to inositide deficiencies, which are… (More)
DOI: 10.1016/j.ymgme.2008.05.008

Cite this paper

@article{Buccafusca2008CharacterizationOT, title={Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain.}, author={Roberto Buccafusca and Charles P. Venditti and Lawrence C. Kenyon and Roy A Johanson and Elisabeth Van Bockstaele and Jun Ren and Silvia Pagliardini and Jeremy Minarcik and Jeffrey Alan Golden and Michael J. Coady and John J. Greer and G{\'e}rard Berry}, journal={Molecular genetics and metabolism}, year={2008}, volume={95 1-2}, pages={81-95} }