ATP1A3

Summary

Gene Symbol: ATP1A3
Description: ATPase Na+/K+ transporting subunit alpha 3
Alias: AHC2, ATP1A1, CAPOS, DYT12, RDP, sodium/potassium-transporting ATPase subunit alpha-3, ATPase, Na+/K+ transporting, alpha 3 polypeptide, Na(+)/K(+) ATPase alpha(III) subunit, Na(+)/K(+) ATPase alpha-3 subunit, Na+, K+ activated adenosine triphosphatase alpha 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
Species: human
Products:     ATP1A3

Top Publications

  1. Benfante R, Antonini R, Vaccari M, Flora A, Chen F, Clementi F, et al. The expression of the human neuronal alpha3 Na+,K+-ATPase subunit gene is regulated by the activity of the Sp1 and NF-Y transcription factors. Biochem J. 2005;386:63-72 pubmed
    ..Although the expression of these factors is not tissue-specific, co-operative functional interactions among them are required to direct the activity of the promoter predominantly in neuronal cells. ..
  2. Aughey R, Murphy K, Clark S, Garnham A, Snow R, Cameron Smith D, et al. Muscle Na+-K+-ATPase activity and isoform adaptations to intense interval exercise and training in well-trained athletes. J Appl Physiol (1985). 2007;103:39-47 pubmed
    ..The Na+ -K+ -ATPase mRNA response to interval exercise of increased alpha- but not beta-mRNA was largely preserved posttrain, suggesting a functional role of alpha mRNA upregulation. ..
  3. de Carvalho Aguiar P, Sweadner K, Penniston J, Zaremba J, Liu L, Caton M, et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004;43:169-75 pubmed
    ..We report the finding of six missense mutations in the gene for the Na+/K+ -ATPase alpha3 subunit (ATP1A3) in seven unrelated families with RDP...
  4. Kramer P, Mineta M, Klein C, Schilling K, De Leon D, Farlow M, et al. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol. 1999;46:176-82 pubmed
    ..Neuroimaging studies indicate no degeneration of dopaminergic nerve terminals in RDP, suggesting that this disorder results from a functional deficit, as in dystonia, rather than neuronal loss, as in ..
  5. Brashear A, Dobyns W, de Carvalho Aguiar P, Borg M, Frijns C, Gollamudi S, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007;130:828-35 pubmed
    ..as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene...
  6. Blanco Arias P, Einholm A, Mamsa H, Concheiro C, Gutiérrez de Terán H, Romero J, et al. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet. 2009;18:2370-7 pubmed publisher
    ..Mutations in ATP1A3 encoding the alpha3 isoform cause rapid-onset dystonia-parkinsonism (RDP)...
  7. Einholm A, Toustrup Jensen M, Holm R, Andersen J, Vilsen B. The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. J Biol Chem. 2010;285:26245-54 pubmed publisher
    Rapid-onset dystonia parkinsonism (RDP), a rare neurological disorder, is caused by mutation of the neuron-specific alpha3-isoform of Na(+), K(+)-ATPase. Here, we present the functional consequences of RDP mutation D923N...
  8. Friedrich U, Stohr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, et al. The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. Hum Mol Genet. 2011;20:1132-42 pubmed publisher
    ..A recent proteomic approach identified the Na/K-ATPase subunits ATP1A3 and ATP1B2 as binding partners of retinoschisin...
  9. Heinzen E, Swoboda K, Hitomi Y, Gurrieri F, Nicole S, de Vries B, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030-4 pubmed publisher
    ..sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals...
  10. Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11:764-73 pubmed publisher
    ..Almost all cases of AHC are sporadic but AHC concordance in monozygotic twins and dominant transmission in a family with a milder phenotype have been reported. Thus, we aimed to identify de-novo mutations associated with this disease...

Detail Information

Publications102 found, 100 shown here

  1. Benfante R, Antonini R, Vaccari M, Flora A, Chen F, Clementi F, et al. The expression of the human neuronal alpha3 Na+,K+-ATPase subunit gene is regulated by the activity of the Sp1 and NF-Y transcription factors. Biochem J. 2005;386:63-72 pubmed
    ..Although the expression of these factors is not tissue-specific, co-operative functional interactions among them are required to direct the activity of the promoter predominantly in neuronal cells. ..
  2. Aughey R, Murphy K, Clark S, Garnham A, Snow R, Cameron Smith D, et al. Muscle Na+-K+-ATPase activity and isoform adaptations to intense interval exercise and training in well-trained athletes. J Appl Physiol (1985). 2007;103:39-47 pubmed
    ..The Na+ -K+ -ATPase mRNA response to interval exercise of increased alpha- but not beta-mRNA was largely preserved posttrain, suggesting a functional role of alpha mRNA upregulation. ..
  3. de Carvalho Aguiar P, Sweadner K, Penniston J, Zaremba J, Liu L, Caton M, et al. Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron. 2004;43:169-75 pubmed
    ..We report the finding of six missense mutations in the gene for the Na+/K+ -ATPase alpha3 subunit (ATP1A3) in seven unrelated families with RDP...
  4. Kramer P, Mineta M, Klein C, Schilling K, De Leon D, Farlow M, et al. Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol. 1999;46:176-82 pubmed
    ..Neuroimaging studies indicate no degeneration of dopaminergic nerve terminals in RDP, suggesting that this disorder results from a functional deficit, as in dystonia, rather than neuronal loss, as in ..
  5. Brashear A, Dobyns W, de Carvalho Aguiar P, Borg M, Frijns C, Gollamudi S, et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain. 2007;130:828-35 pubmed
    ..as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene...
  6. Blanco Arias P, Einholm A, Mamsa H, Concheiro C, Gutiérrez de Terán H, Romero J, et al. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet. 2009;18:2370-7 pubmed publisher
    ..Mutations in ATP1A3 encoding the alpha3 isoform cause rapid-onset dystonia-parkinsonism (RDP)...
  7. Einholm A, Toustrup Jensen M, Holm R, Andersen J, Vilsen B. The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. J Biol Chem. 2010;285:26245-54 pubmed publisher
    Rapid-onset dystonia parkinsonism (RDP), a rare neurological disorder, is caused by mutation of the neuron-specific alpha3-isoform of Na(+), K(+)-ATPase. Here, we present the functional consequences of RDP mutation D923N...
  8. Friedrich U, Stohr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, et al. The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis. Hum Mol Genet. 2011;20:1132-42 pubmed publisher
    ..A recent proteomic approach identified the Na/K-ATPase subunits ATP1A3 and ATP1B2 as binding partners of retinoschisin...
  9. Heinzen E, Swoboda K, Hitomi Y, Gurrieri F, Nicole S, de Vries B, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030-4 pubmed publisher
    ..sequencing of seven patients with AHC and their unaffected parents to identify de novo nonsynonymous mutations in ATP1A3 in all seven individuals...
  10. Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmuller J, Frommolt P, et al. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol. 2012;11:764-73 pubmed publisher
    ..Almost all cases of AHC are sporadic but AHC concordance in monozygotic twins and dominant transmission in a family with a milder phenotype have been reported. Thus, we aimed to identify de-novo mutations associated with this disease...
  11. Brashear A, Mink J, Hill D, Boggs N, McCall W, Stacy M, et al. ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. Dev Med Child Neurol. 2012;54:1065-7 pubmed publisher
    ..of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene...
  12. Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, et al. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients. PLoS ONE. 2013;8:e56120 pubmed publisher
    ..Recent studies from the U.S. and Europe have described ATP1A3 mutations in AHC. However, the genotype-phenotype relationship remains unclear...
  13. Stober T, Bermejo J, Séché A, Lehmann F, Rammelsberg P, Bömicke W. Electroplated and cast double crown-retained removable dental prostheses: 6-year results from a randomized clinical trial. Clin Oral Investig. 2015;19:1129-36 pubmed publisher
    The purpose of this study was to evaluate the clinical performance of removable dental prostheses (RDP) supported by either electroplated (EP-RDP) or cast (C-RDP) double crowns. Fifty-four participants received a total of 60 RDP...
  14. Chen S, He Q. Enrichment and specific quantification of Methanocalculus in anaerobic digestion. J Biosci Bioeng. 2015;120:677-83 pubmed publisher
    ..with perfect match to >80% of all Methanocalculus 16S rRNA gene sequences in the Ribosomal Database Project (RDP). High specificity of the qPCR assay was also validated by both in silico and experimental analyses...
  15. Freeman R. The Trans-Pacific Partnership and pharmaceutical innovation. Res Social Adm Pharm. 2016;12:633-7 pubmed publisher
    ..document has raised a number of concerns about intellectual property rights (IPR) and regulatory data protection (RDP) that have implications for public health and economic policy throughout the region...
  16. Joshi R, Gaspard N, Goncharova I, Pavlova M, Duckrow R, Gerrard J, et al. Progressive change in sleep over multiple nights of intracranial EEG monitoring. Clin Neurophysiol. 2016;127:2302-7 pubmed publisher
    ..We used a metric calculated from relative delta power (RDP) to evaluate the emergence of sleep cycles for every night of monitoring...
  17. Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, et al. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. BMC Neurol. 2016;16:174 pubmed publisher
    ..De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, ..
  18. Björnsdotter M, Romera García E, Borrull J, de Boer J, Rubio S, Ballesteros Gómez A. Presence of diphenyl phosphate and aryl-phosphate flame retardants in indoor dust from different microenvironments in Spain and the Netherlands and estimation of human exposure. Environ Int. 2018;112:59-67 pubmed publisher
    ..Other aryl-PFRs, namely cresyl diphenyl phosphate (CDP), resorcinol bis(diphenyl phosphate) (RDP), 2-ethylhexyl diphenyl phosphate (EDPHP), isodecyl diphenyl phosphate (IDP) and bisphenol A bis(diphenyl phosphate)..
  19. Christia C, Poma G, Besis A, Samara C, Covaci A. Legacy and emerging organophosph?rus flame retardants in car dust from Greece: Implications for human exposure. Chemosphere. 2017;196:231-239 pubmed publisher
    ..V6), isodecyl diphenyl phosphate (iDDPHP), resorcinol bis(diphenylphosphate) (RDP) and bisphenol A-bis(diphenyl phosphate) (BDP) in car dust from Greece...
  20. Goldstein I, Lerer E, Laiba E, Mallet J, Mujaheed M, Laurent C, et al. Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders. Biol Psychiatry. 2009;65:985-91 pubmed publisher
    ..polymorphisms (SNPs) across the three genes of the brain alpha isoforms of Na+, K+- ATPase (ATP1A1, ATP1A2, and ATP1A3, which encode the three alpha isoforms, alpha1, alpha2, and alpha3, respectively) identified using HapMap data and ..
  21. Huang B, Feng L, Zhao J. Systematic review and meta-analysis of robotic versus laparoscopic distal pancreatectomy for benign and malignant pancreatic lesions. Surg Endosc. 2016;30:4078-85 pubmed publisher
    ..to identify studies (up to July 2015) that compared perioperative outcomes between robotic distal pancreatectomy (RDP) and laparoscopic distal pancreatectomy (LDP)...
  22. Wu Y, Liu J, Lu H, Wu C, Kerr P. Periphyton: an important regulator in optimizing soil phosphorus bioavailability in paddy fields. Environ Sci Pollut Res Int. 2016;23:21377-21384 pubmed
    ..Specifically, all the contents of water-soluble P (WSP), readily desorbable P (RDP), algal-available P (AAP), and NaHCO3-extractable P (Olsen-P) in paddy soil increased to an extent ..
  23. Holm T, Isaksen T, Glerup S, Heuck A, Bøttger P, Füchtbauer E, et al. Cognitive deficits caused by a disease-mutation in the ?3 Na(+)/K(+)-ATPase isoform. Sci Rep. 2016;6:31972 pubmed publisher
    ..Autosomal dominant mutations in the human ATP1A3 gene encoding the neuron-specific Na(+)/K(+)-ATPase ?3 isoform cause different neurological diseases, including ..
  24. Badal J, Biarnés M, Monés J. Performance characteristics of multicolor versus blue light and infrared imaging in the identification of reticular pseudodrusen. Int Ophthalmol. 2018;38:199-206 pubmed publisher
    ..Multicolor did not appear to add a significant value to infrared in the evaluation of RDP. Clinicians using infrared do not need to incorporate multicolor for the identification and quantification of RPD.
  25. Gdanetz K, Benucci G, Vande Pol N, Bonito G. CONSTAX: a tool for improved taxonomic resolution of environmental fungal ITS sequences. BMC Bioinformatics. 2017;18:538 pubmed publisher
    ..Here we compare how three common fungal OTU taxonomic assignment tools (RDP Classifier, UTAX, and SINTAX) handle ITS fungal sequence data...
  26. Simmons C, Thompson C, Cawthon B, Westlake G, Swoboda K, Kiskinis E, et al. Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. Neurobiol Dis. 2018;115:29-38 pubmed publisher
    Mutations in ATP1A3 encoding the catalytic subunit of the Na/K-ATPase expressed in mammalian neurons cause alternating hemiplegia of childhood (AHC) as well as an expanding spectrum of other neurodevelopmental syndromes and neurological ..
  27. Zhou Y, Lin F, Cui Z, Zhang X, Hu C, Shen T, et al. Correlation between Either Cupriavidus or Porphyromonas and Primary Pulmonary Tuberculosis Found by Analysing the Microbiota in Patients' Bronchoalveolar Lavage Fluid. PLoS ONE. 2015;10:e0124194 pubmed publisher
    ..271,764 amplicons were detected in samples and analysed using tools in the Ribosomal Database Project (RDP) and bioinformatics...
  28. Foxman B, Luo T, Srinivasan U, Ramadugu K, Wen A, Goldberg D, et al. The effects of family, dentition, and dental caries on the salivary microbiome. Ann Epidemiol. 2016;26:348-54 pubmed publisher
    ..9.0, and taxonomy was assigned using the Ribosomal Database Project (RDP; http://rdp.cme.msu.edu/) classifier and sequences aligned with the CORE database using PyNAST...
  29. Hall M. Nitrogen source and concentration affect utilization of glucose by mixed ruminal microbes in vitro. J Dairy Sci. 2017;100:2739-2750 pubmed publisher
    The availability of rumen-degradable protein (RDP) changes the use of carbohydrates by ruminal microbes...
  30. Lohmann K, Klein C. Update on the Genetics of Dystonia. Curr Neurol Neurosci Rep. 2017;17:26 pubmed publisher
    ..genes for isolated dystonia TOR1A, THAP1, and GNAL as well as for the combined dystonias due to mutations in GCH1, ATP1A3, and SGCE...
  31. Schirinzi T, Graziola F, Nicita F, Travaglini L, Stregapede F, Valeriani M, et al. Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations. Cerebellum. 2018;: pubmed publisher
    b>ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus,..
  32. Ventura N, Jin A, Tse M, Peterson N, Andrew R, Mewburn J, et al. Maternal hypertension programs increased cerebral tissue damage following stroke in adult offspring. Mol Cell Biochem. 2015;408:223-33 pubmed publisher
    ..Gene expression of Na(+)/K(+) ATPase channel isoforms, Atp1a1, Atp1a3, and Atp1b1, displayed no significant differences...
  33. Zoidis P, Papathanasiou I, Polyzois G. The Use of a Modified Poly-Ether-Ether-Ketone (PEEK) as an Alternative Framework Material for Removable Dental Prostheses. A Clinical Report. J Prosthodont. 2016;25:580-584 pubmed publisher
    ..PEEK) as an alternative material for the fabrication of distal extension removable dental prosthesis (RDP) frameworks...
  34. Shin H, Lee S, Ko H, Koh J. Evaluating Transient Hemifacial Spasm that Reappears After Microvascular Decompression Specifically Focusing on the Real Culprit Location of Vascular Compression. World Neurosurg. 2017;98:774-779 pubmed publisher
    ..adopted the terms of subdivision in the facial nerve root exit zone: RExP, root exit point; AS, attached segment; RDP, root detachment point; TZ, transition zone; and CP, distal cisternal portion. Among 115 patients, 56 (48...
  35. Pisciotta L, Gherzi M, Stagnaro M, Calevo M, Giannotta M, Vavassori M, et al. Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients. Brain Dev. 2017;39:521-528 pubmed publisher
    ..Besides their usefulness in clarifying the pathophysiology of the disease, prospective studies involving larger cohorts of ATP1A3 mutated AHC patients are needed to provide a rationale for testing other molecules.
  36. Zablotska L, Fenske N, Schnelzer M, Zhivin S, Laurier D, Kreuzer M. Analysis of mortality in a pooled cohort of Canadian and German uranium processing workers with no mining experience. Int Arch Occup Environ Health. 2018;91:91-103 pubmed publisher
    ..Poisson regression was used to evaluate the association between cumulative exposures to radon decay products (RDP) and gamma-rays and causes of death potentially related to uranium processing...
  37. Han K, Oh D, Lee S, Lee C, Han J, Kim M, et al. ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy. Sci Rep. 2017;7:16504 pubmed publisher
    ..E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and ..
  38. Bengtsson T, Román J, Persson T. The use of methacholine provocation when assessing therapeutic equivalence between two inhalers in asthmatic patients. Contemp Clin Trials. 2018;67:87-90 pubmed publisher
    ..67-1.50]) and the relative dose-potency (RDP) between M3 and M2 determined with 90% CI. Sixty patients were randomised and all completed the study...
  39. Vinje H, Liland K, Almøy T, Snipen L. Comparing K-mer based methods for improved classification of 16S sequences. BMC Bioinformatics. 2015;16:205 pubmed publisher
    ..We have based our study on the commonly known and well-used naïve Bayes classifier from the RDP project, and four other methods were implemented and tested on two different data sets, on full-length sequences as ..
  40. Datta S, Basu S, Chandy M. An analysis of transfusion support in haematopoietic stem cell transplantation--report from a centre in India. Transfus Apher Sci. 2015;53:373-7 pubmed publisher
    ..We analysed the mean requirement of blood components (RBC, RDP, SDP and FFP) within the first 100 days of HSCT in each category...
  41. Barloscio D, Cerri E, Domenici L, Longhi R, Dallanoce C, Moretti M, et al. In vivo study of the role of ?6-containing nicotinic acetylcholine receptor in retinal function using subtype-specific RDP-MII(E11R) toxin. FASEB J. 2017;31:192-202 pubmed publisher
    ..We have characterized a family of toxins that are antagonists for ?6?2* receptors and used one of these [RDP-MII(E11R)] to localize ?6* nAChRs and investigate their impact on retinal function in adult Long-Evans rats...
  42. Xiao Y, Zhang E, Fu A. Promotion of SH-SY5Y Cell Growth by Gold Nanoparticles Modified with 6-Mercaptopurine and a Neuron-Penetrating Peptide. Nanoscale Res Lett. 2017;12:641 pubmed publisher
    ..application of gold nanoparticles (AuNPs) modified with 6-mercaptopurine (6MP) and a neuron-penetrating peptide (RDP) as a neurophic agent to promote proliferation and neurite growth of human neuroblastoma (SH-SY5Y) cells...
  43. Pendyala G, Buescher J, Fox H. Methamphetamine and inflammatory cytokines increase neuronal Na+/K+-ATPase isoform 3: relevance for HIV associated neurocognitive disorders. PLoS ONE. 2012;7:e37604 pubmed publisher
    ..differing by one regimen, METH treatment, we identified the neuron specific Na(+)/K(+)-ATPase alpha 1 isoform 3 (ATP1A3) to be up regulated after METH treatment, and validated its up regulation by METH in vitro...
  44. Kao C, Liao H, Chien C, Tseng Y, Tang P, Lin C, et al. The change of microbial community from chlorinated solvent-contaminated groundwater after biostimulation using the metagenome analysis. J Hazard Mater. 2016;302:144-150 pubmed publisher
    ..2-fold, Pseudomonas by 3.4-fold and Sulfuricurvum by 4-fold with the analysis of the ribosomal database project (RDP)...
  45. Ito T, Narugami M, Egawa K, Yamamoto H, Asahina N, Kohsaka S, et al. Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene. Brain Dev. 2017;: pubmed publisher
    Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p...
  46. Wang X, Ye T, Chen W, Lv Y, Hao Z, Chen J, et al. Structural shift of gut microbiota during chemo-preventive effects of epigallocatechin gallate on colorectal carcinogenesis in mice. World J Gastroenterol. 2017;23:8128-8139 pubmed publisher
    ..Using the best hit classification option, the sequences from each sample were aligned to the RDP 16S rRNA training set to classify the taxonomic abundance in QIIME. Statistical analyses were then performed...
  47. Kirshenbaum G, Dachtler J, Roder J, Clapcote S. Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood. Neurogenetics. 2016;17:57-63 pubmed publisher
    Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase α3 are the primary cause of alternating hemiplegia of childhood (AHC)...
  48. Gurrieri F, Tiziano F, Zampino G, Neri G. Recognizable facial features in patients with alternating hemiplegia of childhood. Am J Med Genet A. 2016;170:2698-705 pubmed publisher
    ..The main causative gene, ATP1A3, is also responsible for other neurodevelopmental disorders...
  49. Huey R, O Hagan B, McCarron P, Hawthorne S. Targeted drug delivery system to neural cells utilizes the nicotinic acetylcholine receptor. Int J Pharm. 2017;525:12-20 pubmed publisher
    ..drug delivery system using a specific neural cell targeting ligand, rabies virus derived peptide (RDP)...
  50. Ballesteros Gómez A, Aragón Ã, Van den Eede N, de Boer J, Covaci A. Impurities of Resorcinol Bis(diphenyl phosphate) in Plastics and Dust Collected on Electric/Electronic Material. Environ Sci Technol. 2016;50:1934-40 pubmed publisher
    Resorcinol bis(diphenylphosphate) (RDP) is an organophosphorus flame retardant widely used in electric and electronic equipment. It has been detected in house dust of several European countries according to recent literature...
  51. Tranebjærg L, Strenzke N, Lindholm S, Rendtorff N, Poulsen H, Khandelia H, et al. The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management. Hum Genet. 2018;137:111-127 pubmed publisher
    ..2452G>A, p.Glu818Lys, in ATP1A3, encoding the neuron-specific alpha subunit of the Na+/K+-ATPase α3...
  52. Shull M, Lingrel J. Multiple genes encode the human Na+,K+-ATPase catalytic subunit. Proc Natl Acad Sci U S A. 1987;84:4039-43 pubmed
  53. He H, Chin S, Zhuang K, Hartong R, Apriletti J, Gick G. Negative regulation of the rat Na-K-ATPase alpha 3-subunit gene promoter by thyroid hormone. Am J Physiol. 1996;271:C1750-6 pubmed
    ..These data demonstrate that the proximal promoter of the rat Na-K-ATPase alpha 3 gene contains sequence motifs that mediate repression of alpha 3 gene transcription in response to either T3 or RA in neonatal rat cardiac myocytes...
  54. Hauck C, Potter T, Bartz M, Wittwer T, Wahlers T, Mehlhorn U, et al. Isoform specificity of cardiac glycosides binding to human Na+,K+-ATPase alpha1beta1, alpha2beta1 and alpha3beta1. Eur J Pharmacol. 2009;622:7-14 pubmed publisher
    ..Thus, in contrast to current notion, different cardiac glycoside agents may significantly differ in their pharmacological profile which could be of hitherto unknown clinical relevance. ..
  55. Kasten M, Brüggemann N, Konig I, Doerry K, Steinlechner S, Wenzel L, et al. Risk for antipsychotic-induced extrapyramidal symptoms: influence of family history and genetic susceptibility. Psychopharmacology (Berl). 2011;214:729-36 pubmed publisher
    ..This study aims to further evaluate the impact of family history of primary movement disorders (FHpMD) and a candidate genetic variant on risk of antipsychotic-induced extrapyramidal symptoms (EPS)...
  56. Brockmann K. Episodic movement disorders: from phenotype to genotype and back. Curr Neurol Neurosci Rep. 2013;13:379 pubmed publisher
    ..dyskinesia as a clinical hallmark, was recently found to be caused by heterozygous de novo mutations in the ATP1A3 gene. The clinical spectra of PRRT2 as well as of ATP1A3 mutations are still expanding...
  57. Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, et al. Genotype-phenotype correlations in alternating hemiplegia of childhood. Neurology. 2014;82:482-90 pubmed publisher
    ..To investigate genotype-phenotype correlations in AHC, we analyzed the clinical information and ATP1A3 mutations in patients with AHC...
  58. Vila Pueyo M, Pons R, Raspall Chaure M, Marcé Grau A, Carreño O, Sintas C, et al. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. J Neurol Sci. 2014;344:37-42 pubmed publisher
    ..De novo mutations in ATP1A3 have been identified in up to 80% of patients...
  59. Qu J, Yang Z, Zhang Y, Mao C, Wang Z, Mao X, et al. Common variants of ATP1A3 but not ATP1A2 are associated with Chinese genetic generalized epilepsies. J Neurol Sci. 2015;354:56-62 pubmed publisher
    ATP1A2 and ATP1A3 are genes that code for catalytic subunits of Na/K-ATPases, which play important roles in the basal electrophysiological states of nerve cells...
  60. Maas R, Schieving J, Schouten M, Kamsteeg E, van de Warrenburg B. The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. Pediatr Neurol. 2016;59:71-75.e1 pubmed publisher
    ..20 years ago, but it was only recently that whole exome sequencing unveiled the causative mutation in the ATP1A3 gene...
  61. Arfken A, Song B, Bowman J, Piehler M. Denitrification potential of the eastern oyster microbiome using a 16S rRNA gene based metabolic inference approach. PLoS ONE. 2017;12:e0185071 pubmed publisher
    ..classified the composition of microbiomes, showing similar classification results from Silva, Greengenes and RDP databases...
  62. Hainque E, Caillet S, Leroy S, Flamand Roze C, Adanyeguh I, Charbonnier Beaupel F, et al. A randomized, controlled, double-blind, crossover trial of triheptanoin in alternating hemiplegia of childhood. Orphanet J Rare Dis. 2017;12:160 pubmed publisher
    ..and efficacy of triheptanoin on paroxysmal episodes in patients with alternating hemiplegia of childhood due to ATP1A3 mutations...
  63. Sugimoto H, Ikeda K, Kawakami K. Atp1a3-deficient heterozygous mice show lower rank in the hierarchy and altered social behavior. Genes Brain Behav. 2017;: pubmed publisher
    b>Atp1a3 is the Na-pump alpha3 subunit gene expressed mainly in neurons of the brain. Atp1a3-deficient heterozygous mice (Atp1a3+/- ) show altered neurotransmission and deficits of motor function after stress loading...
  64. Guerrini G, Lauretta A, Belluco C, Olivieri M, Forlin M, Basso S, et al. Robotic versus laparoscopic distal pancreatectomy: an up-to-date meta-analysis. BMC Surg. 2017;17:105 pubmed publisher
    ..The aim of this study was to compare the results of robotic (RDP) and laparoscopic distal pancreatectomy...
  65. Kaufman J, Pohler K, Mulliniks J, Rius A. Lowering rumen-degradable and rumen-undegradable protein improved amino acid metabolism and energy utilization in lactating dairy cows exposed to heat stress. J Dairy Sci. 2018;101:386-395 pubmed publisher
    The objective of this study was to evaluate the effects of reducing dietary rumen-degradable protein (RDP) and rumen-undegradable protein (RUP) on protein and energy metabolism in heat-stressed dairy cows...
  66. Sverdlov E, Monastyrskaia G, Broude N, Ushkarev I, Melkov A. [The family of human Na+,K+-ATPase genes. Structure of the gene for isozyme alphaII]. Dokl Akad Nauk SSSR. 1987;297:1488-94 pubmed
  67. Sverdlov E, Broude N, Sverdlov V, Monastyrskaya G, Grishin A, Petrukhin K, et al. Family of Na+,K+-ATPase genes. Intra-individual tissue-specific restriction fragment length polymorphism. FEBS Lett. 1987;221:129-33 pubmed
    ..In addition, the tissue specificity of the expression of different genes of the family of Na+,K+-ATPase genes and their low expression in tumor cells have been demonstrated. ..
  68. Harley H, Brook J, Jackson C, Glaser T, Walsh K, Sarfarazi M, et al. Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus. Genomics. 1988;3:380-4 pubmed
    The gene coding for a Na+,K+-ATPase alpha subunit (ATP1A3) has been localized to the q12----q13.2 region of human chromosome 19, potentially close to the myotonic dystrophy (DM) gene...
  69. Rigoard P, Tartarin F, Buffenoir K, Chaillou M, Fares M, D Houtaud S, et al. The Na, K-ATPase alpha3-isoform specifically localizes in the Schmidt-Lanterman incisures of human nerve. Cell Mol Biol (Noisy-le-grand). 2007;53 Suppl:OL1003-9 pubmed
    ..The human sural nerve shows a specific localization of the Na+,K+-ATPase alpha3-isoform in the Schmidt-Lanterman incisures of Schwann cells in addition to its localization in axonal membranes. ..
  70. Burk K, Desoeuvre A, Boutin C, Smith M, Kroger S, Bosio A, et al. Agrin-signaling is necessary for the integration of newly generated neurons in the adult olfactory bulb. J Neurosci. 2012;32:3759-64 pubmed publisher
    ..Last, we provide in vivo evidence that an interaction between agrin and ?3-Na(+)K(+)-ATPase is of functional importance in this system. ..
  71. Kirshenbaum G, Dawson N, Mullins J, Johnston T, Drinkhill M, Edwards I, et al. Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase ?3 missense mutant mice. PLoS ONE. 2013;8:e60141 pubmed publisher
    Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase ?3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months...
  72. Hoei Hansen C, Dali C, Lyngbye T, Duno M, Uldall P. Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. Eur J Paediatr Neurol. 2014;18:50-4 pubmed publisher
    ..De novo mutations in ATP1A3 were recently identified as a genetic cause of AHC...
  73. Rosewich H, Ohlenbusch A, Huppke P, Schlotawa L, Baethmann M, Carrilho I, et al. The expanding clinical and genetic spectrum of ATP1A3-related disorders. Neurology. 2014;82:945-55 pubmed publisher
    We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders and recognition of a potential genotype-phenotype correlation...
  74. MacDonald M, Ding Y, Newman J, Hemby S, Penzes P, Lewis D, et al. Altered glutamate protein co-expression network topology linked to spine loss in the auditory cortex of schizophrenia. Biol Psychiatry. 2015;77:959-68 pubmed publisher
    ..expression in schizophrenia were significantly enriched for glutamate signaling pathway proteins (GRIA4, GRIA3, ATP1A3, and GNAQ)...
  75. Sweney M, Newcomb T, Swoboda K. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond. Pediatr Neurol. 2015;52:56-64 pubmed publisher
    b>ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, ..
  76. Gavriilidis P, Lim C, Menahem B, Lahat E, Salloum C, Azoulay D. Robotic versus laparoscopic distal pancreatectomy - The first meta-analysis. HPB (Oxford). 2016;18:567-74 pubmed publisher
    ..The aim of this study was to compare robotic distal pancreatectomy (RDP) versus laparoscopic distal pancreatectomy (LDP) using meta-analysis...
  77. Yano S, Silver K, Young R, Debrosse S, Ebel R, Swoboda K, et al. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Pediatr Neurol. 2017;73:101-105 pubmed publisher
    We identified a group of patients with ATP1A3 mutations at residue 756 who display a new phenotype, distinct from alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism, and cerebellar ataxia, areflexia, pes cavus, optic ..
  78. Ceuppens S, De Coninck D, Bottledoorn N, Van Nieuwerburgh F, Uyttendaele M. Microbial community profiling of fresh basil and pitfalls in taxonomic assignment of enterobacterial pathogenic species based upon 16S rRNA amplicon sequencing. Int J Food Microbiol. 2017;257:148-156 pubmed publisher
    ..bioinformatics analysis pipelines (MEGAN, SILVAngs, QIIME and MG-RAST), including the database choice (Greengenes, RDP and M5RNA) and the annotation algorithm (best hit, representative hit and lowest common ancestor)...
  79. Kuster A, Arnoux J, Barth M, Lamireau D, Houcinat N, Goizet C, et al. Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles. J Inherit Metab Dis. 2017;: pubmed publisher
    ..and scaffolding modifications; SLC6A19 regulating amino acid transport; MTM1, KCNQ2 (n = 2), and ATP1A3 playing a role in nerve cell electrophysiological state...
  80. Nakamura Y, Hattori A, Nakashima M, Ieda D, Hori I, Negishi Y, et al. A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever. Brain Dev. 2017;: pubmed publisher
    Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness...
  81. Liu M, Yin H, Chen X, Yang J, Liang Y, Zhang J, et al. Preliminary ecotoxicity hazard evaluation of DOPO-HQ as a potential alternative to halogenated flame retardants. Chemosphere. 2018;193:126-133 pubmed publisher
    ..Similar low effect levels were observed for resorcinol bis (biphenyl) phosphate (RDP), bisphenol A bis (biphenyl) phosphate (BDP) and its parent chemical 9, 10-dihydro-9-oxa-10-phosphaphenanthrene -..
  82. Kim D, Hong S, Kim Y, Ryu S, Kim H, Lee J. Metagenomic Approach to Identifying Foodborne Pathogens on Chinese cabbage. J Microbiol Biotechnol. 2017;: pubmed publisher
    ..Sequence quality was assessed, and phylogenetic assessments were performed using the RDP classifier implemented in QIIME with a bootstrap cutoff of 80%...
  83. Crambert G, Hasler U, Beggah A, Yu C, Modyanov N, Horisberger J, et al. Transport and pharmacological properties of nine different human Na, K-ATPase isozymes. J Biol Chem. 2000;275:1976-86 pubmed
    ..In conclusion, our study reveals several new functional characteristics of human Na,K-ATPase isozymes which help to better understand their role in ion homeostasis in different tissues and in digitalis action and toxicity. ..
  84. Lee J, Gollamudi S, Ozelius L, Kim J, Jeon B. ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism. Mov Disord. 2007;22:1808-9 pubmed
    ..dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na(+)/K(+)-ATPase alpha3 subunit gene (ATP1A3)...
  85. Roubergue A, Roze E, Vuillaumier Barrot S, Fontenille M, Méneret A, Vidailhet M, et al. The multiple faces of the ATP1A3-related dystonic movement disorder. Mov Disord. 2013;28:1457-9 pubmed publisher
  86. Chen X, Wee N, Hiong K, Ong J, Chng Y, Ching B, et al. Properties and expression of Na+/K+-ATPase α-subunit isoforms in the brain of the swamp eel, Monopterus albus, which has unusually high brain ammonia tolerance. PLoS ONE. 2013;8:e84298 pubmed publisher
    ..albus. ..
  87. Ulate Campos A, Fons C, Campistol J, Martorell L, Cancho Candela R, Eirís J, et al. [Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients]. Med Clin (Barc). 2014;143:25-8 pubmed publisher
    ..Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC...
  88. Paciorkowski A, McDaniel S, Jansen L, TULLY H, Tuttle E, Ghoneim D, et al. Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly. Epilepsia. 2015;56:422-30 pubmed publisher
    Mutations of ATP1A3 have been associated with rapid onset dystonia-parkinsonism and more recently with alternating hemiplegia of childhood...
  89. Viollet L, Glusman G, Murphy K, Newcomb T, Reyna S, Sweney M, et al. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLoS ONE. 2015;10:e0127045 pubmed publisher
    Mutations in ATP1A3 cause Alternating Hemiplegia of Childhood (AHC) by disrupting function of the neuronal Na+/K+ ATPase...
  90. Ohnishi T, Yanazawa M, Sasahara T, Kitamura Y, Hiroaki H, Fukazawa Y, et al. Na, K-ATPase α3 is a death target of Alzheimer patient amyloid-β assembly. Proc Natl Acad Sci U S A. 2015;112:E4465-74 pubmed publisher
    ..Our findings open up new possibilities for knowledge-based design of peptidomimetics that inhibit neurodegeneration in AD by blocking aberrant ASPD-NAKα3 interaction. ..
  91. Jaffer F, Avbersek A, Vavassori R, Fons C, Campistol J, Stagnaro M, et al. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. Brain. 2015;138:2859-74 pubmed publisher
    Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'...
  92. Hully M, Ropars J, Hubert L, Boddaert N, Rio M, Bernardelli M, et al. Mosaicism in ATP1A3-related disorders: not just a theoretical risk. Neurogenetics. 2017;18:23-28 pubmed publisher
    Mutations in ATP1A3 are involved in a large spectrum of neurological disorders, including rapid onset dystonia parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, pes cavus, optic atrophy, and ..
  93. Sorkaç A, Alcantara I, Hart A. In Vivo Modelling of ATP1A3 G316S-Induced Ataxia in C. elegans Using CRISPR/Cas9-Mediated Homologous Recombination Reveals Dominant Loss of Function Defects. PLoS ONE. 2016;11:e0167963 pubmed publisher
    ..Exome sequencing revealed a heterozygous de novo mutation converting glycine 316 to serine in ATP1A3, which might cause disease. ATP1A3 encodes the Na+/K+ ATPase pump ?3-subunit...
  94. Whelan F, Surette M. A comprehensive evaluation of the sl1p pipeline for 16S rRNA gene sequencing analysis. Microbiome. 2017;5:100 pubmed publisher
    ..and options are available to sl1p users, through testing with human-associated mock communities, AbundantOTU+, the RDP Classifier, and the Greengenes 2011 reference database were chosen as sl1p's defaults based on their ability to ..
  95. Liang K, Shi F, Liu J. Occurrence and distribution of oligomeric organophosphorus flame retardants in different treatment stages of a sewage treatment plant. Environ Pollut. 2018;232:229-235 pubmed publisher
    ..2-chloroethyl) bisphosphate (V6), resorcinol bis(diphenylphosphate) (RDP) and bisphenol A bis(diphenylphosphate) (BDP), are widely used as alternatives of Deca-BDE in plastic and ..
  96. Sechler S, Mullenix M, Holland C, Muntifering R. Fiber digestion kinetics and protein degradability characteristics of stockpiled Tifton 85 bermudagrass. J Anim Sci. 2017;95:3922-3931 pubmed publisher
    ..39) in yr 1, and a strong relationship was observed in yr 2 ( = 0.91; < 0.05). The RDP fraction as a % of CP was ? 90% throughout both years...
  97. Chang I, Adam M, Jayadev S, Bird T, Natarajan N, Glass I. Novel pregnancy-triggered episodes of CAPOS syndrome. Am J Med Genet A. 2017;: pubmed publisher
    ..All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na+ /K+ ATPase ?3...
  98. Savari M, Khorvash M, Amanlou H, Ghorbani G, Ghasemi E, Mirzaei M. Effects of rumen-degradable protein:rumen-undegradable protein ratio and corn processing on production performance, nitrogen efficiency, and feeding behavior of Holstein dairy cows. J Dairy Sci. 2018;101:1111-1122 pubmed publisher
    This study was conducted to investigate the effects of the ratio of rumen-degradable protein (RDP) to rumen-undegradable protein (RUP) and corn processing method on production performance, nitrogen (N) efficiency, and feeding behavior of ..
  99. Sverdlov E, Monastyrskaya G, Broude N, Ushkaryov YuA -, Allikmets R, Melkov A, et al. The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. FEBS Lett. 1987;217:275-8 pubmed
    ..A comparative analysis of the primary structure of these genes in the region 749-1328 (in coordinates of cDNA from the pig alpha-subunit) is presented. ..
  100. Yang X, Gao H, Zhang J, Xu X, Liu X, Wu X, et al. ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. PLoS ONE. 2014;9:e97274 pubmed publisher
    Alternating hemiplegia of childhood (AHC) is a rare and severe neurological disorder. ATP1A3 was recently identified as the causative gene. Here we report the first genetic study in Chinese AHC cohort...