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Filters: Keyword is Mutation  [Clear All Filters]
2017
Jiang Y, Loh Y-, Rajarajan P, Hirayama T, Liao W, Kassim BS, et al. The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain. Nat Genet. 2017;49(8):1239-1250.
Khan S, Stott SR, Chabrat A, Truckenbrodt AM, Spencer-Dene B, Nave K-, et al. Survival of a Novel Subset of Midbrain Dopaminergic Neurons Projecting to the Lateral Septum Is Dependent on NeuroD Proteins. J Neurosci. 2017;37(9):2305-2316.
2016
Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, et al. A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. Neurology. 2016;86(2):161-9.
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.
2013
Mahammad S, Murthy SN, Didonna A, Grin B, Israeli E, Perrot R, et al. Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest. 2013;123(5):1964-75.
Saxena S, Roselli F, Singh K, Leptien K, J-P Julien, Gros-Louis F, et al. Neuroprotection through excitability and mTOR required in ALS motoneurons to delay disease and extend survival. Neuron. 2013;80(1):80-96.
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.
2011
Yan CH, Lévesque M, Claxton S, Johnson RL, Ang S-. Lmx1a and lmx1b function cooperatively to regulate proliferation, specification, and differentiation of midbrain dopaminergic progenitors. J Neurosci. 2011;31(35):12413-25.
Filali M, Dequen F, Lalonde R, J-P Julien. Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E. Behav Brain Res. 2011;219(2):175-80.
Dewey CM, Cenik B, Sephton CF, Dries DR, Mayer P, Good SK, et al. TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor. Mol Cell Biol. 2011;31(5):1098-108.
Huang H, Priori SG, Napolitano C, O'Leary ME, Chahine M. Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels. Am J Physiol Heart Circ Physiol. 2011;300(1):H288-99.
2010
Pi HJ, Otmakhov N, Lemelin D, De Koninck P, Lisman J. Autonomous CaMKII can promote either long-term potentiation or long-term depression, depending on the state of T305/T306 phosphorylation. J Neurosci. 2010;30(26):8704-9.
Takeuchi S, Fujiwara N, Ido A, Oono M, Takeuchi Y, Tateno M, et al. Induction of protective immunity by vaccination with wild-type apo superoxide dismutase 1 in mutant SOD1 transgenic mice. J Neuropathol Exp Neurol. 2010;69(10):1044-56.
Gros-Louis F, Soucy G, Larivière R, J-P Julien. Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS. J Neurochem. 2010;113(5):1188-99.
Ezzi SA, Larivière R, Urushitani M, J-P Julien. Neuronal over-expression of chromogranin A accelerates disease onset in a mouse model of ALS. J Neurochem. 2010;115(5):1102-11.

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