ArticleProceedings of the National Academy of Sciences of the United States of America2007
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed, 125 citations in OpenAlex.
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- Plasma membrane calcium ATPases and cerebellar pathology: what's the role in the ataxia?Biology direct · 2025Review
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- A genome-wide association study identifies new loci associated with response to SARS-CoV-2 mRNA-1273 vaccine in a cohort of healthy healthcare workers.Frontiers in immunology · 2025Article
- The Role of Calcium Signaling in Sensorineural Hearing Loss.International journal of medical sciences · 2025Review
- Methylome and transcriptome joint analyses identify differentially expressed genes based on purebred and crossbred Tianjin-monkey Chicken.Animal biotechnology · 2024Article
- Genetic variants inHeliyon · 2024Article
- Expression assay of calcium signaling related lncRNAs in autism.Molecular biology reports · 2024Article
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- The ataxia-linked E1081Q mutation affects the sub-plasma membrane CaCell death & disease · 2022Article
- Grxcr1 regulates hair bundle morphogenesis and is required for normal mechanoelectrical transduction in mouse cochlear hair cells.PloS one · 2022Article
- Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing.PLoS genetics · 2022Article
- Synaptic Contributions to Cochlear Outer Hair Cell CaThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Rbm24 regulates inner-ear-specific alternative splicing and is essential for maintaining auditory and motor coordination.RNA biology · 2021Article
- Article
- Plasma Membrane CaFrontiers in cellular neuroscience · 2021Article
- Primary Active CaCold Spring Harbor perspectives in biology · 2020Review
- Tonotopy in calcium homeostasis and vulnerability of cochlear hair cells.Hearing research · 2019Review
2 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
Ca2+ enters the stereocilia of hair cells through mechanoelectrical transduction channels opened by the deflection of the hair bundle and is exported back to endolymph by an unusual splicing isoform (w/a) of plasma-membrane calcium-pump isoform 2 (PMCA2). Ablation or missense mutations of the pump cause deafness, as described for the G283S mutation in the deafwaddler (dfw) mouse. A deafness-inducing missense mutation of PMCA2 (G293S) has been identified in a human family. The family also was screened for mutations in cadherin 23, which accentuated hearing loss in a previously described human family with a PMCA2 mutation. A T1999S substitution was detected in the cadherin 23 gene of the healthy father and affected son but not in that of the unaffected mother, who presented instead the PMCA2 mutation. The w/a isoform was overexpressed in CHO cells. At variance with the other PMCA2 isoforms, it became activated only marginally when exposed to a Ca2+ pulse. The G293S and G283S mutations delayed the dissipation of Ca2+ transients induced in CHO cells by InsP3. In organotypic cultures, Ca2+ imaging of vestibular hair cells showed that the dissipation of stereociliary Ca2+ transients induced by Ca2+ uncaging was compromised in the dfw and PMCA2 knockout mice, as was the sensitivity of the mechanoelectrical transduction channels to hair bundle displacement in cochlear hair cells.
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