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Secretory pathway stress responses as possible mechanisms of disease involving Golgi Ca2+ pump dysfunction.
Review in BioFactors (Oxford, England). The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 37 citations in OpenAlex.
- Insulin-regulated actin dynamics is disrupted in a human keratinocyte model of Hailey-Hailey disease.American journal of physiology. Cell physiology · 2026Article
- Insulin-Regulated Actin Dynamics is Disrupted in a Human Keratinocyte Model of Hailey Hailey Disease.bioRxiv : the preprint server for biology · 2025Article
- Hailey-Hailey Disease is Associated with Diabetes: A Population-based Cohort Study, Clinical Cohort Study, and Pedigree Analysis.Acta dermato-venereologica · 2023Article
- The ins and outs of mammary gland calcium and zinc transport: A brief review.JDS communications · 2023Review
- The role of the Golgi apparatus in disease (Review).International journal of molecular medicine · 2021Review
- Epidermal Lamellar Body Biogenesis: Insight Into the Roles of Golgi and Lysosomes.Frontiers in cell and developmental biology · 2021Review
- A Negative Feedback Loop in Ultraviolet A-Induced Senescence in Human Dermal Fibroblasts Formed by SPCA1 and MAPK.Frontiers in cell and developmental biology · 2020Article
- Characterization of Hailey-Hailey Disease-mutants in presence and absence of wild type SPCA1 using Saccharomyces cerevisiae as model organism.Scientific reports · 2019Article
- Synergy among non-desmoglein antibodies contributes to the immunopathology of desmoglein antibody-negative pemphigus vulgaris.The Journal of biological chemistry · 2019Article
- A putative calcium-ATPase of the secretory pathway family may regulate calcium/manganese levels in the Golgi apparatus of Entamoeba histolytica.Parasitology research · 2018Article
- Yeast-Based Screen to Identify Natural Compounds with a Potential Therapeutic Effect in Hailey-Hailey Disease.International journal of molecular sciences · 2018Article
- The role of the ATP2C1 gene in Hailey-Hailey disease.Cellular and molecular life sciences : CMLS · 2017Review
- ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.Cell death & disease · 2016Review
- The key target of neuroprotection after the onset of ischemic stroke: secretory pathway Ca(2+)-ATPase 1.Neural regeneration research · 2015Article
- A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?PloS one · 2015Article
- Gene expression correlations in human cancer cell lines define molecular interaction networks for epithelial phenotype.PloS one · 2014Article
- The secretory pathway calcium ATPase PMR-1/SPCA1 has essential roles in cell migration during Caenorhabditis elegans embryonic development.PLoS genetics · 2013Article
- Changes in secretory pathway Ca(2+)-ATPase 2 following focal cerebral ischemia/reperfusion injury.Neural regeneration research · 2013Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
In mammalian tissues, uptake of Ca(2+) and Mn(2+) by Golgi membranes is mediated by the secretory pathway Ca(2+) -ATPases, SPCA1 and SPCA2, encoded by the ATP2C1 and ATP2C2 genes. Loss of one copy of the ATP2C1 gene, which causes SPCA1 haploinsufficiency, leads to squamous cell tumors of keratinized epithelia in mice and to Hailey-Hailey disease, an acantholytic skin disease, in humans. Although the disease phenotypes resulting from SPCA1 haploinsufficiency in mice and humans are quite different, each species-specific phenotype is remarkably similar to those arising as a result of null mutations in one copy of the ATP2A2 gene, encoding SERCA2, the endoplasmic reticulum (ER) Ca(2+) pump. SERCA2 haploinsufficiency, like SPCA1 haploinsufficiency, causes squamous cell tumors in mice and Darier's disease, also an acantholytic skin disease, in humans. The phenotypic similarities between SPCA1 and SERCA2 haploinsufficiency in the two species, and the general functions of the two pumps in consecutive compartments of the secretory pathway, suggest that the underlying disease mechanisms are similar. In this review, we discuss evidence supporting the view that chronic Golgi stress and/or ER stress resulting from Ca(2+) pump haploinsufficiencies leads to activation of cellular stress responses in keratinocytes, with the predominance of proapoptotic pathways (although not necessarily apoptosis itself) leading to acantholytic skin disease in humans and the predominance of prosurvival pathways leading to tumors in mice.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.