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Reduced phosphatidylinositol 4,5-bisphosphate synthesis impairs inner ear Ca2+ signaling and high-frequency hearing acquisition.
Rodriguez L, Simeonato E, Scimemi P, Anselmi F, Calì B, Crispino G, Ciubotaru CD, Bortolozzi M, Ramirez FG, Majumder P, Arslan E, De Camilli P, Pozzan T, Mammano F. Rodriguez L, et al. Proc Natl Acad Sci U S A. 2012 Aug 28;109(35):14013-8. doi: 10.1073/pnas.1211869109. Epub 2012 Aug 13. Proc Natl Acad Sci U S A. 2012. PMID: 22891314 Free PMC article.
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Schütz M, Scimemi P, Majumder P, De Siati RD, Crispino G, Rodriguez L, Bortolozzi M, Santarelli R, Seydel A, Sonntag S, Ingham N, Steel KP, Willecke K, Mammano F. Schütz M, et al. Hum Mol Genet. 2010 Dec 15;19(24):4759-73. doi: 10.1093/hmg/ddq402. Epub 2010 Sep 21. Hum Mol Genet. 2010. PMID: 20858605 Free PMC article.