ATP1A3
- Known as:
- ATP1A3
- Catalog number:
- 002163A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ATP1A3
Related genes to: ATP1A3
- Gene:
- ATP1A3 NIH gene
- Name:
- ATPase Na+/K+ transporting subunit alpha 3
- Previous symbol:
- DYT12
- Synonyms:
- -
- Chromosome:
- 19q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: ATP1A3
Related articles to: ATP1A3
- -related disorders comprise an expanding group of ultra-rare neurologic conditions, classically including rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. However, accumulating reports suggest a broader and overlapping phenotypic spectrum. In this context, we established the Study Group to comprehensively characterize the phenotypic and genotypic spectrum of -related disorders in a Brazilian cohort. - Source: PubMed
Publication date: 2026/08/27
Rebelo Procaci Victorda Hora Raphael Pinheiro CamurugyGomes Anna MariaSilva Thiago Yoshinaga TonholoEmbiruçu Emilia KatianeSilva Thiago OliveiraVan Der Linden VanessaEstephan Eduardo De PaulaOliveira Fabio Nazarede Goes Fernanda Veigade Freitas Marcela RodriguezHorovitz Dafne Dain GandelmanDomingues José Darlan PinheiroMöller Patricia Dumke da SilvaPoswar Fabiano OliveiraKrueger Mariana Braatzvan der Linden HélioTorres Bruna RibeiroLoutfi Karina SoaresKauark Roberta Borges GomesInuzuka Luciana MidoriCabral Katiane Sayão SouzaOliveira IsabelaRocha Maria Sheila GCamargos SarahMaia Debora PalmaMaciel Ricardo Oliveira HortaCardoso Franciscoda Penha Ananias Morita MariaCoelho Érica NogueiraFrança Marcondes CLima Pedro Lucas Grangeiro de Sá BarretoPessoa André Luiz SantosBarsottini Orlando G PNóbrega Paulo RibeiroPedroso José Luis - The natural history of the most common -related disease, alternating hemiplegia of childhood (AHC), has not been determined. We investigated three hypotheses: (1) AHC worsens over time; (2) several novel factors correlate with long-term outcomes; and (3) AHC manifests high mortality. - Source: PubMed
Publication date: 2025/11/11
Patel Shital HPanagiotakaki EleniLiu BeiyuFons CarmenPrange LyndseyPapadopoulou Maria TBoggs AprilDe Grandis ElisaVezyroglou AikateriniFortunato FrancescoBalestrini SimonaRagona FrancescaTosi Eugenia JuliaZucca ClaudioGarone GiacomoMegvinov AndreyBosco Giosuè LoStagnaro MichelaUchitel JulieComajuan MarionTerzi Matthildi Athina PapathanasiouAnticona JenniferJasien Joan MWuchich JeffreyJohannesson Sigurdur HNarayan JCross J HelenSisodiya Sanjay MHong HwanheeArzimanoglou AlexisVavassori RosariaMikati Mohamad A - This study investigated structural connectivity in Alternating Hemiplegia of Childhood (AHC) using advanced tractography and connectome analysis, as characterizing brain network alterations in this rare disorder may clarify its cognitive and motor impairments. This prospective monocentric study included 10 individuals with AHC (mean age 23.2 years) and 20 matched healthy controls. All participants underwent 3T MRI with 3D T1-weighted and high-angular resolution diffusion sequences. Brain structural networks were evaluated using global and nodal graph measures, modular organization, and network-based statistics. Associations with motor and cognitive performance were examined using the Wechsler scales, Vineland Adaptive Behavior Scales-II, International Cooperative Ataxia Rating Scale, and the Movement and Disability sections of the Burke-Fahn-Marsden Dystonia Rating Scale. At the global level, AHC participants exhibited reduced network integration, reflected by higher characteristic path length (P = 0.04) and lower global efficiency (P = 0.04) compared to controls. Mean degree (P = 0.03) and normalized betweenness (P = 0.04) were also decreased. Network-based statistics revealed a single subnetwork of reduced connectivity involving basal ganglia, frontal, and insular regions bilaterally (P = 0.01). At the nodal level, 21 of 84 nodes showed reduced degree, mainly within frontal, limbic, temporal, occipital lobes, and basal ganglia. Nodal graph-theoretical metrics showed widespread, region-specific correlations with motor severity and cognitive performance, particularly involving sensorimotor, fronto-striatal, temporal, limbic, cerebellar, and subcortical regions. In summary, AHC is characterized by a globally less integrated and sparser structural brain network, with prominent disruption of cortico-striatal and associative circuits and region-specific nodal alterations that correlate with motor severity and cognitive impairment. - Source: PubMed
Publication date: 2026/07/10
Severino MariasavinaPisciotta LiviaTortora DomenicoTrò RosellaParodi CostanzaStagnaro MichelaPanzeri SofiaGherzi MarcellaMartinez Popple MarinaCordani RamonaNobili LinoFato Marco MassimoRossi AndreaDe Grandis Elisa - To explore the clinical phenotype, genetic characteristics and etiology of a child with Relapsing encephalopathy with cerebellar ataxia (RECA). - Source: PubMed
Zhou YunYan LuluHuang MinghaiTu YouquanChen ChangshuiZhang YuxinHe YanLi Haibo - The Na,K-ATPase (NKA) is essential for neuronal excitability. The neuron-specific α3 isoform differs from the ubiquitous α1 isoform by its low affinity for intracellular Na, weak voltage dependence, and slightly reduced ATP sensitivity, yet the functional relevance of these features remains unclear. Using biophysically detailed models of stretch receptor neurons, we examined how isoform-specific pump kinetics influence firing behavior. Substitution of α1 for α3 NKA abolished sustained spike trains and reduced high-frequency entrainment. In contrast, modifying α3 NKA to exhibit α1-like voltage or ATP dependence did not affect neuronal excitability. These results indicate that Na affinity, rather than voltage or ATP dependence, is the critical determinant of α3 NKA specialization. Our findings provide a mechanistic explanation for the selective expression of α3 NKA in muscle spindle afferents and other high-frequency neurons, highlighting that NKA isoform properties are tuned to the discharge demands of distinct neuronal populations. - Source: PubMed
Publication date: 2026/06/25
Reshetnikov KirillTiselko VasiliiDobretsov Maxim