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anti-Human ATP1A3 Antikörper:
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Cow (Bovine) Monoclonal ATP1A3 Primary Antibody für BP, FACS - ABIN152699
Lingrel, Orlowski, Shull, Price: Molecular genetics of Na,K-ATPase. in Progress in nucleic acid research and molecular biology 1990
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Human Polyclonal ATP1A3 Primary Antibody für WB - ABIN1881087
Einholm, Toustrup-Jensen, Holm, Andersen, Vilsen: The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. in The Journal of biological chemistry 2010
Show all 3 Pubmed References
Patients with R756L and R756C protein variants display more prominent ataxia, overlapping with the relapsing encephalopathy with cerebellar ataxia syndrome.
Germline mosaicism for ATP1A3 mutations is a likely explanation for familial recurrence and should be considered during recurrence risk counseling for families of children with ATP1A3-related disorders.
conclude that the de novo G316S mutation in ATP1A3 likely causes or contributes to patient symptoms. More broadly, we conclude that, for conserved genes, it is possible to rapidly and easily model human diseases in C. elegans using CRIPSR/Cas9 genome editing
study confirms that the specific c.2452G>A mutation in the ATP1A3 gene is associated with the CAPOS syndrome in pedigrees of different ethnic backgrounds; also the first report showing the co-occurrence of hemiplegic migraine and CAPOS syndrome in a patient with ATP1A3 mutations
Our results, demonstrate a highly variable clinical phenotype in patients with alternating hemiplegia of childhood that correlates with certain mutations and possibly clusters within the ATPase (zeige DNAH8 Antikörper) Na+/K+ transporting subunit alpha 3 gene.
nvestigated a large dystonia family from New Zealand in which only females were affected; found a novel, likely disease-causing, three base-pair deletion (c.443_445delGAG, p.Ser148del) in ATP1A3 in this family by combining genome and exome sequencing
Common variants of ATP1A3 were associated with susceptibility to generalized epilepsy in a Chinese population.
This study further expands the number and spectrum of ATP1A3 mutations associated with Alternating Hemiplegia of Childhood and confirms a more deleterious effect of the E815K mutation on selected neurologic outcomes.
This study demonstrated that the ATP1A3 protein was altered in auditory cortex patient with schizophreia.
interactions of alpha3-NKA (zeige TAC1 Antikörper) with extracellular alpha-syn assemblies reduce its pumping activity as its mutations in RDP/AHC (zeige NR0B1 Antikörper).
preparations of Na+,K(+)-ATPase (zeige ATP1A1 Antikörper) isozymes from calf brain that contain catalytic subunits of three types (alpha 1, alpha 2, and alpha 3) were obtained.The real isozyme composition of the Na+ pump from the grey matter and the brain stem was determined.
Knockout of sodium pump alpha3 subunit gene (Atp1a3(-/-)) results in perinatal seizure and defective respiratory rhythm generation
Study identified the Na+/K+-ATPase alpha 1 and 3 subunits as receptors for the extracellular fragment of GPNMB that mediates activation of cellular signaling pathways and subsequent neuroprotective effects.
Myshkin mice carrying a wild-type Atp1a3 transgene that confers a 16 % increase in brain-specific (zeige CALY Antikörper) total Na(+),K(+)-ATPase (zeige ATP1A1 Antikörper) activity show significant phenotypic improvements compared with non-transgenic Myshkin mice.
Heterozygous Myshkin mice have an amino acid change (I810N) in Na+,K+-ATPase (zeige ATP1A1 Antikörper) alpha3 and deficits in learning and memory consistent with the cognitive impairment of the vast majority of Alternating Hemiplegia of Childhood patients
findings show Atp1a3-deficient heterozygotes exhibited shorter stride length at 4 weeks of age without stress and at later stages under chronic restraint stress; Atp1a3 was widely expressed in the brain and spinal cord of young mice; expression pattern was compatible with movement abnormalities under lack of one of alleles
These results shed light on the role of Atp1a3 in the inhibitory synapse, and potential involvement of inhibitory synaptic dysfunction for the pathophysiology of dystonia.
Increased Atp1a3 protein levels in the hippocampus provide evidence for its possible role in mechanisms that parallel memory training.
We found that a mutation that decreases neuronal Na(+) ,K(+) -ATPase (zeige ATP1A1 Antikörper) activity interacts with stress to exacerbate depression.
Retinoschisin (zeige RS1 Antikörper), the protein involved in the pathogenesis of X-linked juvenile retinoschisis, membrane association is severely impaired in the absence of ATP1A3 and ATP1B2 (zeige ATP1B2 Antikörper).
Stress induced deficits in motor coordination and balance in female Atp1a3 mutant (Het) mice. These mice also exhibited decreased thermal sensitivity, as well as altered circling patterns and monoamine systems.
Study reports the cloning and expression of Na, K-ATPase (zeige ATP1A1 Antikörper) alpha2 (atp1a2 (zeige ATP1A2 Antikörper)) and alpha3 (atp1a3) subunits during Xenopus development and compare the expression patterns of each subunit.
Molecular cloning and sequence of the porcine ATP1A3 promoter.
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Na(+)/K(+) ATPase alpha(III) subunit
, Na(+)/K(+) ATPase alpha-3 subunit
, Na+/K+ ATPase 3
, sodium pump subunit alpha-3
, sodium-potassium ATPase catalytic subunit alpha-3
, sodium-potassium-ATPase, alpha 3 polypeptide
, sodium/potassium-transporting ATPase alpha-3 chain
, sodium/potassium-transporting ATPase subunit alpha-3
, ATPase, Na+K+ transporting, alpha 3 subunit
, Na+/K+ -ATPase alpha 3 subunit
, Na /K transporting alpha 3 polypeptide