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Article

Ionic leakage underlies a gain-of-function effect of dominant disease mutations affecting diverse P-type ATPases.

Nature genetics - 1 Feb 2014

Kaneko Maki, Desai Bela S, Cook Boaz

Abstract excerpt

Type II P-type ATPases (PAIIs) constitute a family of conserved proteins that actively generate ionic gradients across membranes. Mutations in genes encoding PAIIs can cause heritable dominant diseases, with suggested etiology of haploinsufficiency. Using a Drosophila melanogaster genetic screen, we identified a dominant mutation altering the PAII member sarcoendoplasmic reticulum Ca(2+) ATPase (SERCA). This...

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Identifiers

PMID: 24336169
DOI: 10.1038/ng.2850

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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