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Article

Hailey-Hailey disease as an orthodisease of PMR1 deficiency in Saccharomyces cerevisiae.

FEBS letters - 11 Apr 2005

Kellermayer Richard

Abstract excerpt

The term orthodisease has recently been introduced to define human disorders in which the pathogenic gene has orthologs in model organism genomes. Here, we describe Hailey-Hailey disease (HHD), a blistering skin disorder caused by haploinsufficiency of ATP2C1 as an orthodisease from a Saccharomyces cerevisiae perspective. ATP2C1 encodes the human secretory pathway Ca(2+)/Mn(2+) ATPase hSPCA1 and is orthologous to...

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PMID: 15811312
DOI: 10.1016/j.febslet.2005.03.003

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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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