2008年2月7日 · ATP1A3 -related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined phenotypes: alternating hemiplegia of …

Sodium/potassium-transporting ATPase subunit alpha-3 is an enzyme that in humans is encoded by the ATP1A3 gene. [5][6] The protein encoded by this gene belongs to the family of P-type …

2025年3月30日 · ATP1A3 (ATPase Na+/K+ Transporting Subunit Alpha 3) is a Protein Coding gene. Diseases associated with ATP1A3 include Dystonia 12 and Cerebellar Ataxia, Areflexia, …

2024年12月5日 · Clinical characteristics: ATP1A3 -related disorder consists of heterogenous overlapping clinical findings that pertain to the four most common historically defined …

2021年3月31日 · The causative role of ATP1A3 variants in the pathogenesis of several neurological disorders with a similar pattern of inheritance has been previously documented in …

This study aimed to potentially identify the mechanisms by which ATP1A3 caused neurological dysfunction by analyzing the clinical features and phenotypes of ATP1A3 -related diseases, …

2023年9月15日 · Here, we demonstrate that ATPase Na + /K + transporting subunit alpha 3 (ATP1A3) is abundantly expressed in extracellular vesicles (EVs) isolated from induced …

2025年2月8日 · ATP1A3 is the major pathogenic gene of AHC in Chinese patients. Impaired cognitive function may be a manifestation of ATP1A3 mutation and Rapid-onset dystonia …

The ATP1A3 gene provides instructions for making one part (the alpha-3 subunit) of a protein known as Na+/K+ ATPase or the sodium pump. This protein uses energy from a molecule …

2019年4月19日 · ATP1A3基因位于染色体19q13.2，编码Na+/K+-ATP酶α3亚单位。 Na-K-ATP酶是P型阳离子转运蛋白，在维持Na+和K+跨膜电化学梯度中起着关键作用。 α亚基是催化亚 …