Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2 - Wikidata - wikimedia - TriplyDB

Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2

Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2

http://www.wikidata.org/entity/Q39947054

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ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease Migraine headache: a review of the molecular genetics of a common disorder A homolog of FHM2 is involved in modulation of excitatory neurotransmission by serotonin in C. elegans Polymorphisms in migraine-associated gene, atp1a2, and ischemic stroke risk in a biracial population: the genetics of early onset stroke study.Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.Hyperpolarization-activated inward leakage currents caused by deletion or mutation of carboxy-terminal tyrosines of the Na+/K+-ATPase {alpha} subunit Sodium and proton effects on inward proton transport through Na/K pumps.Brain Na(+), K(+)-ATPase Activity In Aging and Disease.The two C-terminal tyrosines stabilize occluded Na/K pump conformations containing Na or K ions Electrogenic properties of the Na⁺/K⁺ ATPase control transitions between normal and pathological brain states.Protein kinase A (PKA) phosphorylation of Na+/K+-ATPase opens intracellular C-terminal water pathway leading to third Na+-binding site in molecular dynamics simulations Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2.Importance of the Voltage Dependence of Cardiac Na/K ATPase Isozymes.The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.Altered Na+ transport after an intracellular alpha-subunit deletion reveals strict external sequential release of Na+ from the Na/K pump.Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.Identification of molecular genetic factors that influence migraine.Pearls and pitfalls in genetic studies of migraine.Neuronal calcium signaling: function and dysfunction.Animal models of monogenic migraine.Intracellular Requirements for Passive Proton Transport through the Na+,K+-ATPase.Pathophysiology of Migraine: A Disorder of Sensory Processing.Stabilization of the α2 isoform of Na,K-ATPase by mutations in a phospholipid binding pocket.Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes.Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.Does the sodium pump have secret levels?Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.Measuring cation transport by Na,K- and H,K-ATPase in Xenopus oocytes by atomic absorption spectrophotometry: an alternative to radioisotope assays.Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.Enhanced susceptibility to cortical spreading depression in two types of Na+,K+-ATPase α2 subunit-deficient mice as a model of familial hemiplegic migraine 2.On the effect of hyperaldosteronism-inducing mutations in Na/K pumps.Disruption of Ankyrin B and Caveolin-1 Interaction Sites Alters Na+,K+-ATPase Membrane Diffusion.Molecular simulations and free-energy calculations suggest conformation-dependent anion binding to a cytoplasmic site as a mechanism for Na+/K+-ATPase ion selectivity.Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

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Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2

http://www.wikidata.org/entity/Q39947054

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2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年学术文章

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2008年學術文章

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2008年學術文章

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2008年學術文章

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Diverse functional consequence ...... ial hemiplegic migraine type 2

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Diverse functional consequence ...... al hemiplegic migraine type 2.

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Diverse functional consequence ...... ial hemiplegic migraine type 2

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Diverse functional consequence ...... al hemiplegic migraine type 2.

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Diverse functional consequence ...... ial hemiplegic migraine type 2

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Diverse functional consequence ...... al hemiplegic migraine type 2.

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Diverse functional consequence ...... ial hemiplegic migraine type 2

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Ernst Bamberg

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Jan B Koenderink

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Katharina L Dürr

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Neslihan N Tavraz

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Thomas Friedrich

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Tobias Freilinger

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P2860

Crystal structure of the sodium–potassium pump

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2

Homology modeling of the cation binding sites of Na+K+-ATPase.

Mechanisms of migraine aura revealed by functional MRI in human visual cortex

Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution

Structural changes in the calcium pump accompanying the dissociation of calcium

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation

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10.1074/JBC.M802771200

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45

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283

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18728015

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ATPase Na+/K+ transporting subunit beta 1

ATPase Na+/K+ transporting subunit alpha 2

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