Key result
The Kir1.1a[N124K] mutation found in a patient with hyperprostaglandin E syndrome reduced macroscopic current amplitudes by a factor of approximately 12 compared with wild type channels.
Population
Xenopus oocytes and mammalian cells
Comparison
Heterologous expression of mutant Kir1.1a[N124K]… vs Wild type Kir1.1a and wild type gpKir1.3 channels
Design
Preclinical
Authors
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Supports loss-of-function mechanism in hyperprostaglandin E syndrome; leaves open therapeutic targeting of Kir1.1 residues in humans.
The N124K mutation in Kir1.1a reduces functional channel expression, explaining the hyperprostaglandin E syndrome phenotype and highlighting the crucial role of this residue in Kir channel function.
Derst et al. (1998) studied Hyperprostaglandin E syndrome (HPS). Kir1.1a[N124K] mutation vs. Wild type Kir1.1a was evaluated on Macroscopic current amplitudes. The Kir1.1a[N124K] mutation found in a patient with hyperprostaglandin E syndrome reduced macroscopic current amplitudes by a factor of approximately 12 compared with wild type channels.
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