Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.
作者信息
Anselm I A, Sweadner K J, Gollamudi S, Ozelius L J, Darras B T
机构信息
Department of Neurology, Fegan 11, Children's Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA.
出版信息
Neurology. 2009 Aug 4;73(5):400-1. doi: 10.1212/WNL.0b013e3181b04acd.
Abstract
摘要
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Crystal structure of the sodium-potassium pump.钠钾泵的晶体结构。
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The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.快速发作性肌张力障碍-帕金森综合征（RDP）的表型谱及ATP1A3基因突变
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Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.钠钾ATP酶α3基因（ATP1A3）的突变与快速进展性肌张力障碍帕金森综合征相关。
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Amino acid substitutions in the rat Na+, K(+)-ATPase alpha 2-subunit alter the cation regulation of pump current expressed in HeLa cells.大鼠Na + ，K（+）-ATP酶α2亚基中的氨基酸替换改变了HeLa细胞中所表达的泵电流的阳离子调节。
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