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Filters: Keyword is Mutation  [Clear All Filters]
2014
Ward ME, Taubes A, Chen R, Miller BL, Sephton CF, Gelfand JM, et al. Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD. J Exp Med. 2014;211(10):1937-45.
Poulin H, Bruhova I, Timour Q, Thériault O, Beaulieu J-, Frassati D, et al. Fluoxetine blocks Nav1.5 channels via a mechanism similar to that of class 1 antiarrhythmics. Mol Pharmacol. 2014;86(4):378-89.
Jourdain P, Becq F, Lengacher S, Boinot C, Magistretti PJ, Marquet P. The human CFTR protein expressed in CHO cells activates aquaporin-3 in a cAMP-dependent pathway: study by digital holographic microscopy. J Cell Sci. 2014;127(Pt 3):546-56.
Gosselin-Badaroudine P, Moreau A, Chahine M. Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link? Channels (Austin). 2014;8(1):90-4.
Mechakra A, Vincent Y, Chevalier P, Millat G, Ficker E, Jastrzebski M, et al. The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT. Gene. 2014;536(2):348-56.
Bureau A, Parker MM, Ruczinski I, Taub MA, Marazita ML, Murray JC, et al. Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts. Genetics. 2014;197(3):1039-44.
2012
Gosselin-Badaroudine P, Delemotte L, Moreau A, Klein ML, Chahine M. Gating pore currents and the resting state of Nav1.4 voltage sensor domains. Proc Natl Acad Sci USA. 2012;109(47):19250-5.
Brotherton TE, Li Y, Cooper D, Gearing M, J-P Julien, Rothstein JD, et al. Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS. Proc Natl Acad Sci USA. 2012;109(14):5505-10.
Gentil BJ, Minotti S, Beange M, Baloh RH, J-P Julien, Durham HD. Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease. FASEB J. 2012;26(3):1194-203.
Cenik B, Sephton CF, Cenik BK, Herz J, Yu G. Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. J Biol Chem. 2012;287(39):32298-306.
Gosselin-Badaroudine P, Keller DI, Huang H, Pouliot V, Chatelier A, Osswald S, et al. A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype. PLoS ONE. 2012;7(5):e38331.
Raingo J, Khvotchev M, Liu P, Darios F, Li YC, Ramirez DM, et al. VAMP4 directs synaptic vesicles to a pool that selectively maintains asynchronous neurotransmission. Nat Neurosci. 2012;15(5):738-45.

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