Export 52 results:
Filters: Keyword is Mutation [Clear All Filters]
The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain. Nat Genet. 2017;49(8):1239-1250.
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.
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. Neurology. 2016;86(2):161-9.
Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD. J Exp Med. 2014;211(10):1937-45.
Fluoxetine blocks Nav1.5 channels via a mechanism similar to that of class 1 antiarrhythmics. Mol Pharmacol. 2014;86(4):378-89.
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.
Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link? Channels (Austin). 2014;8(1):90-4.
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.
Giant axonal neuropathy-associated gigaxonin mutations impair intermediate filament protein degradation. J Clin Invest. 2013;123(5):1964-75.
Gating pore currents and the resting state of Nav1.4 voltage sensor domains. Proc Natl Acad Sci USA. 2012;109(47):19250-5.
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.
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.
Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. J Biol Chem. 2012;287(39):32298-306.
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.
VAMP4 directs synaptic vesicles to a pool that selectively maintains asynchronous neurotransmission. Nat Neurosci. 2012;15(5):738-45.
Lmx1a and lmx1b function cooperatively to regulate proliferation, specification, and differentiation of midbrain dopaminergic progenitors. J Neurosci. 2011;31(35):12413-25.
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.
TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor. Mol Cell Biol. 2011;31(5):1098-108.
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.
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.
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.
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.
Neuronal over-expression of chromogranin A accelerates disease onset in a mouse model of ALS. J Neurochem. 2010;115(5):1102-11.