Neurological disease mutations of α3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function.

No abstract is available for this paper.

• Publication year

  2016

• Venue

  Biochimica et Biophysica Acta

• Publication date

  2016-11-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.bbabio.2016.08.009PMID 27577505
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Intermediate Phenotypes of ATP1A3 Mutations: Phenotype–Genotype Correlations

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• Rescue of Na+ Affinity in Aspartate 928 Mutants of Na+,K+-ATPase by Secondary Mutation of Glutamate 314*

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• Sequential substitution of K+ bound to Na+,K+-ATPase visualized by X-ray crystallography

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• The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

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• Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

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• Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation

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• ATP1A3 Mutations and Genotype-Phenotype Correlation of Alternating Hemiplegia of Childhood in Chinese Patients

  2014cited by this paper
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  2014cited by this paper
• Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

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• Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome

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• The expanding clinical and genetic spectrum of ATP1A3-related disorders

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• Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

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  2013cited by this paper
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  2013cited by this paper
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