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A gating mutation in the internal pore of ASIC1a.
Pfister Y, Gautschi I, Takeda AN, van Bemmelen M, Kellenberger S, Schild L. Pfister Y, et al. Among authors: gautschi i. J Biol Chem. 2006 Apr 28;281(17):11787-91. doi: 10.1074/jbc.M513692200. Epub 2006 Feb 23. J Biol Chem. 2006. PMID: 16497675 Free article.
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.
Hansson JH, Schild L, Lu Y, Wilson TA, Gautschi I, Shimkets R, Nelson-Williams C, Rossier BC, Lifton RP. Hansson JH, et al. Among authors: gautschi i. Proc Natl Acad Sci U S A. 1995 Dec 5;92(25):11495-9. doi: 10.1073/pnas.92.25.11495. Proc Natl Acad Sci U S A. 1995. PMID: 8524790 Free PMC article.
41 results