ArticlePloS one2013
Rare variants in calcium homeostasis modulator 1 (CALHM1) found in early onset Alzheimer's disease patients alter calcium homeostasis.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- Biology, function and structure of the calcium homeostasis modulator family.The Journal of physiology · 2025Review
- Model-based evaluation of connexin hemichannel permeability.Computational and structural biotechnology journal · 2025Article
- Structure of human CALHM1 reveals key locations for channel regulation and blockade by ruthenium red.Nature communications · 2023Article
- A Genome-Wide Functional Screen Identifies Enhancer and Protective Genes for Amyloid Beta-Peptide Toxicity.International journal of molecular sciences · 2023Article
- Homology Modelling, Molecular Docking and Molecular Dynamics Simulation Studies of CALMH1 against Secondary Metabolites ofBrain sciences · 2022Article
- Pathogenesis of sporadic Alzheimer's disease by deficiency of NMDA receptor subunit GluN3A.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2022Article
- Artificial Intelligence, Machine Learning and Deep Learning in Ion Channel Bioinformatics.Membranes · 2021Review
- On the molecular nature of large-pore channels.Journal of molecular biology · 2021Review
- Review
- Neural stem cell-conditioned medium ameliorates Aβ25-35-induced damage in SH-SY5Y cells by protecting mitochondrial function.Bosnian journal of basic medical sciences · 2021Article
- Upregulation of Calcium Homeostasis Modulators in Contractile-To-Proliferative Phenotypical Transition of Pulmonary Arterial Smooth Muscle Cells.Frontiers in physiology · 2021Article
- Interrelation between ROS and CaRedox biology · 2020Review
- Calcium-Handling Defects and Neurodegenerative Disease.Cold Spring Harbor perspectives in biology · 2020Review
- Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Unraveling the genes implicated in Alzheimer's disease.Biomedical reports · 2017Article
- CALHM1 deficiency impairs cerebral neuron activity and memory flexibility in mice.Scientific reports · 2016Article
- Calcium homeostasis modulator (CALHM) ion channels.Pflugers Archiv : European journal of physiology · 2016Review
- Do Copy Number Changes in CACNA2D2, CACNA2D3, and CACNA1D Constitute a Predisposing Risk Factor for Alzheimer's Disease?Frontiers in genetics · 2016Article
- Centella asiatica Attenuates Amyloid-β-Induced Oxidative Stress and Mitochondrial Dysfunction.Journal of Alzheimer's disease : JAD · 2015Article
- Dynamic range of GSK3α not GSK3β is essential for bidirectional synaptic plasticity at hippocampal CA3-CA1 synapses.Hippocampus · 2014Article
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Authors and funding
32 authors at 13 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Calcium signaling in the brain is fundamental to the learning and memory process and there is evidence to suggest that its dysfunction is involved in the pathological pathways underlying Alzheimer's disease (AD). Recently, the calcium hypothesis of AD has received support with the identification of the non-selective Ca(2+)-permeable channel CALHM1. A genetic polymorphism (p. P86L) in CALHM1 reduces plasma membrane Ca(2+) permeability and is associated with an earlier age-at-onset of AD. To investigate the role of CALHM1 variants in early-onset AD (EOAD), we sequenced all CALHM1 coding regions in three independent series comprising 284 EOAD patients and 326 controls. Two missense mutations in patients (p.G330D and p.R154H) and one (p.A213T) in a control individual were identified. Calcium imaging analyses revealed that while the mutation found in a control (p.A213T) behaved as wild-type CALHM1 (CALHM1-WT), a complete abolishment of the Ca(2+) influx was associated with the mutations found in EOAD patients (p.G330D and p.R154H). Notably, the previously reported p. P86L mutation was associated with an intermediate Ca(2+) influx between the CALHM1-WT and the p.G330D and p.R154H mutations. Since neither expression of wild-type nor mutant CALHM1 affected amyloid ß-peptide (Aß) production or Aß-mediated cellular toxicity, we conclude that rare genetic variants in CALHM1 lead to Ca(2+) dysregulation and may contribute to the risk of EOAD through a mechanism independent from the classical Aß cascade.
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