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Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B. Bolduc V, et al. Among authors: parent l. Am J Hum Genet. 2010 Feb 12;86(2):213-21. doi: 10.1016/j.ajhg.2009.12.013. Epub 2010 Jan 21. Am J Hum Genet. 2010. PMID: 20096397 Free PMC article.
Double mutant cycle analysis identified a critical leucine residue in the IIS4S5 linker for the activation of the Ca(V)2.3 calcium channel.
Wall-Lacelle S, Hossain MI, Sauvé R, Blunck R, Parent L. Wall-Lacelle S, et al. Among authors: parent l. J Biol Chem. 2011 Aug 5;286(31):27197-205. doi: 10.1074/jbc.M111.237412. Epub 2011 Jun 7. J Biol Chem. 2011. PMID: 21652722 Free PMC article.
E., Dionne, F., Dodier, Y., Sauve, R., and Parent, L. (2007) J. Biol. Chem. 282, 27944-27952). By analogy with K(V) channels, we tested the hypothesis that channel activation involves electromechanical coupling between S6 and the S4S5 linker in Ca(V)2.3. ...
E., Dionne, F., Dodier, Y., Sauve, R., and Parent, L. (2007) J. Biol. Chem. 282, 27944-27952). By analogy with K(V) channels, …
221 results