ReviewCell death & disease2016
ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking.
Review in Cell death & disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 55 citations in OpenAlex.
- Molecular Changes Induced by Carbon Dioxide Laser in Hailey-Hailey Disease: A Potential Mechanism Underlying Treatment Efficacy.International journal of dermatology · 2026Trial
- Transforming destructive mechanical cues into therapeutic power: Activation of PIEZO1 and TRPV4 counteracts mechano-induced damage of cellular junctions in Hailey-Hailey disease.Journal of advanced research · 2026Article
- Dupilumab, a Potential Novel Treatment for Hailey-Hailey Disease.Clinics and practice · 2025Review
- Autoimmune pemphigus: difficulties in diagnosis and the molecular mechanisms underlying the disease.Frontiers in immunology · 2025Review
- Late-onset Hailey-Hailey disease with a novel ATP2C1 mutation in an older female patient.JAAD case reports · 2024Article
- A Novel Nonsense Mutation of the ATP2C1 Gene in an 18-Year-Old-Female with Papular Acantholytic Dyskeratosis of the Anogenital Area.Clinical, cosmetic and investigational dermatology · 2024Article
- A Comprehensive Review of the Genetic and Epigenetic Contributions to the Development of Fibromyalgia.Biomedicines · 2023Review
- Cryo-EM structures of human SPCA1a reveal the mechanism of CaScience advances · 2023Article
- Mitochondrial Autoantibodies and the Role of Apoptosis in Pemphigus Vulgaris.Antibodies (Basel, Switzerland) · 2022Review
- The Pathogenic Mechanism of theClinical, cosmetic and investigational dermatology · 2022Article
- Genome-wide association study identifiesAnnals of the rheumatic diseases · 2021Article
- Two Novel Variants and One Previously Reported Variant in theMolecular syndromology · 2021Article
- Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.International journal of molecular sciences · 2021Review
- The Golgi Calcium ATPase Pump Plays an Essential Role in Adeno-associated Virus Trafficking and Transduction.Journal of virology · 2020Article
- Mosaic variant in ATP2C1 presenting as relapsing linear acantholytic dermatosis.The British journal of dermatology · 2020Article
- Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease.BMC medical genetics · 2020Article
- Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease.Journal of applied genetics · 2020Article
- Primary Active CaCold Spring Harbor perspectives in biology · 2020Review
- The Role of CaCells · 2020Review
- 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
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
ATP2C1 gene codes for the secretory pathway Ca(2+)/Mn(2+)-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey-Hailey disease, a rare skin disorder. In the last few years, several mutations have been described, and here we summarize how they are distributed along the gene and how missense mutations affect protein expression. SPCA1 is expressed in four different isoforms through alternative splicing of the ATP2C1 gene and none of these isoforms is differentially affected by any of these mutations. However, a better understanding of the tissue specific expression of the isoforms, their localization along the secretory pathway, their specific binding partners and the role of the C-terminal tail making isoforms different from each other, will be future goals of the research in this field.
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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.