ATP1A3 Antibody

1. sequencing analysis of ATP1A3 gene was performed, showing a trinucleotide deletion c.2266_2268delGAC p.(D756del) (NM_001256214). PMID: 29395663
2. we describe 7 patients with 6 different de novo ATP1A3 mutations...which confirm that ATP1A3-related neurological disorders make up a phenotypic continuum rather than overlapping syndromes PMID: 29396171
3. Patients with R756L and R756C protein variants display more prominent ataxia, overlapping with the relapsing encephalopathy with cerebellar ataxia syndrome. PMID: 28647130
4. 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. PMID: 27726050
5. 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 PMID: 27936181
6. 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 PMID: 26453127
7. 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 Na+/K+ transporting subunit alpha 3 gene. PMID: 26410222
8. 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 PMID: 25359261
9. Common variants of ATP1A3 were associated with susceptibility to generalized epilepsy in a Chinese population. PMID: 26003227
10. 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. PMID: 25996915
11. This study demonstrated that the ATP1A3 protein was altered in auditory cortex patient with schizophreia. PMID: 25433904
12. interactions of alpha3-NKA with extracellular alpha-syn assemblies reduce its pumping activity as its mutations in RDP/AHC. PMID: 26323479
13. Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. PMID: 26297560
14. The amylospheroids target is neuron-specific Na(+)/K(+)-ATPase alpha3 subunit (NAKalpha3). PMID: 26224839
15. Review of the phenotypic spectrum of ATP1A3-related neurological disorders in children PMID: 25447930
16. The rsults of this study indicate the mutations cause severe phenotypesd of ATP1A3-related disorder spectrum that include catastrophic early life epilepsy, episodic apnea, and postnatal microcephaly. PMID: 25656163
17. This study identified ATP1A3 mutations in 10 alternating hemiplegia of childhood and response to Ketogenic Diet treatment. PMID: 24996492
18. De novo mutations were detected in 100% of 16 AHC patients. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients, G2893A in 2, and C2781G, G2893C and C2411T in one patient each. PMID: 24768197
19. ATP1A3 is the major pathogenic gene of AHC in Chinese patients. PMID: 24842602
20. Impaired cognitive function may be a manifestation of ATP1A3 mutation and Rapid-onset dystonia-parkinsonism PMID: 24436111
21. study shows that an allelic mutation in ATP1A3 produces CAPOS syndrome PMID: 24468074
22. Patients in a Danish pediatric cohort with alternating hemiplegia of childhood reveal no detectable ATP1A3 mutation and are less severely affected. PMID: 24100174
23. This reiew showed that ATP1A4 mutation association with rapid-onset dystonia parkinsonism and Alternating hemiplegia of childhood. PMID: 24739246
24. the ATP1A3mutation is not the sole determinant of clinical expression, implying that genetic, epigenetic, and environmental factors play an important role in the clinical expression of ATP1A3-related disease PMID: 23483595
25. patients with alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism constitute clinical prototypes in a continuous phenotypic spectrum of ATP1A3-related disorders. PMID: 24523486
26. The Glu815Lys genotype of ATP1A3 appears to be associated with the most severe phenotype of alternating hemiplegia of childhood. PMID: 24431296
27. The episodic dyskinesia as a clinical hallmark, was recently found to be caused by heterozygous de novo mutations in the ATP1A3 gene. PMID: 23963607
28. Our results provide validation for missense mutations in Na+,K+-ATPase alpha3 as a cause of Alternating hemiplegia of childhood, and highlight Myshkin mice as a starting point for the exploration of disease mechanisms and novel treatments in AHC. PMID: 23527305
29. Heterozygous de novo mutations of ATP1A3 were identified in all Japanese patients with alternating hemiplegia of childhood PMID: 23409136
30. rapid-onset dystonia-Parkinsonism (RDP) is described in children under age 4 years; study reports new clinical features of delayed motor development, hypotonia, and ataxia in 2 young children with mutations (R756H and D923N) in the ATP1A3 gene PMID: 22924536
31. This work identifies de novo ATP1A3 mutations as the primary cause of alternating hemiplagia of childhood and offers insight into disease pathophysiology by expanding the spectrum of phenotypes associated with mutations in ATP1A3. PMID: 22842232
32. Mutation analysis of the ATP1A3 gene in patients who met clinical criteria. PMID: 22850527
33. An interaction between agrin and alpha3-Na+K+-ATPase is of functional importance in newly generated neurons in the adult olfactory bulb. PMID: 22423096
34. A common ATP1A3 genomic variation may represent a susceptibility factor for the risk for antipsychotic-induced parkinsonism in an allele-dependent manner. PMID: 21072501
35. Retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis, membrane association is severely impaired in the absence of ATP1A3 and ATP1B2. PMID: 21196491
36. Na+/K+-ATPase alpha3 might serve as a therapeutic target for bufalin, and its expression status may help predict sensitivity of hepatocellular carcinoma cells to bufalin treatment. PMID: 21181095
37. Rapid-onset dystonia parkinsonism mutation of the neuron-specific alpha3-isoform of Na(+), K(+)-ATPase is associated with a selective defect in the handling of Na(+) PMID: 20576601
38. abundance in placenta and myometrium was significantly decreased in women in active labor PMID: 12634653
39. These mutations impair enzyme activity or stability. This finding implicates the Na+/K+ pump, a crucial protein responsible for the electrochemical gradient across the cell membrane, in dystonia and parkinsonism. PMID: 15260953
40. A minimal promoter region of approx. 100 bp upstream of the major transcription start site contains the cognate DNA sites for the transcription factors Sp1/3/4, NF-Y,& a half-CRE (cAMP-response element)-like element that binds a still unknown protein. PMID: 15462673
41. The Irish rapid-onset dystonia-Parkinsonism kindred. All affected patients tested had a missense mutation in the Na(+)/K(+) -ATPase alpha3 subunit (ATP1A3). PMID: 17516473
42. We report a 38-year-old Korean man with sporadic rapid-onset dystonia-parkinsonism (RDP), who had a Thr 618 Met mutation in the Na(+)/K(+)-ATPase alpha3 subunit gene (ATP1A3). PMID: 17595045
43. 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. PMID: 18184478
44. Several mutations in alpha3 have been identified that link the specific function of the Na+,K+-ATPase to the pathophysiology of neurological diseases such as rapid-onset dystonia parkinsonism and familial hemiplegic migraine type 2 PMID: 18957371
45. Significant nominal association with bipolar disooder was observed for single Single Nucleotide Polymorphism(rs919390) in the gene of ATP1A3. PMID: 19058785
46. C-terminal of ATP1A3 plays a crucial role in regulating the sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. PMID: 19351654

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HGNC: 801

OMIM: 128235

KEGG: hsa:478

STRING: 9606.ENSP00000302397

UniGene: Hs.515427