{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhou Y"],"funding":["Department of Ophthalmology and Visual Sciences as well as a Career Development Award","NCATS NIH HHS","NEI NIH HHS","NIH/NEI","NCI NIH HHS","NINDS NIH HHS","NIH","NIH HHS"],"pagination":["257"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10854584"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(3)"],"pubmed_abstract":["TRPM3 belongs to the melastatin sub-family of transient receptor potential (TRPM) cation channels and has been shown to function as a steroid-activated, heat-sensitive calcium ion (Ca<sup>2+</sup>) channel. A missense substitution (p.I65M) in the TRPM3 gene of humans (<i>TRPM3</i>) and mice (<i>Trpm3</i>) has been shown to underlie an inherited form of early-onset, progressive cataract. Here, we model the pathogenetic effects of this cataract-causing mutation using 'knock-in' mutant mice and human cell lines. <i>Trpm3</i> and its intron-hosted micro-RNA gene (<i>Mir204</i>) were strongly co-expressed in the lens epithelium and other non-pigmented and pigmented ocular epithelia. Homozygous <i>Trpm3</i>-mutant lenses displayed elevated cytosolic Ca<sup>2+</sup> levels and an imbalance of sod"],"journal":["Cells"],"pubmed_title":["A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens."],"pmcid":["PMC10854584"],"funding_grant_id":["UL1 TR002345","NS103350","UL1TR002345","R01 EY028899","EY028899","EY009532","P30 EY002687","R01 EY029171","P30 CA091842","R01 NS103350","R01 EY009532","EY02687","EY028899, EY02687, NS103350, EY009532","EY029171","P30 CA91842"],"pubmed_authors":["Ruzycki PA","Shiels A","Guo Z","Bennett TM","Cao YQ","Zhou Y","Shahidullah M","Delamere NA"],"additional_accession":[]},"is_claimable":false,"name":"A Cataract-Causing Mutation in the TRPM3 Cation Channel Disrupts Calcium Dynamics in the Lens.","description":"TRPM3 belongs to the melastatin sub-family of transient receptor potential (TRPM) cation channels and has been shown to function as a steroid-activated, heat-sensitive calcium ion (Ca<sup>2+</sup>) channel. A missense substitution (p.I65M) in the TRPM3 gene of humans (<i>TRPM3</i>) and mice (<i>Trpm3</i>) has been shown to underlie an inherited form of early-onset, progressive cataract. Here, we model the pathogenetic effects of this cataract-causing mutation using 'knock-in' mutant mice and human cell lines. <i>Trpm3</i> and its intron-hosted micro-RNA gene (<i>Mir204</i>) were strongly co-expressed in the lens epithelium and other non-pigmented and pigmented ocular epithelia. Homozygous <i>Trpm3</i>-mutant lenses displayed elevated cytosolic Ca<sup>2+</sup> levels and an imbalance of sod","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jan","modification":"2026-07-03T03:15:29.642Z","creation":"2025-04-04T13:34:13.059Z"},"accession":"S-EPMC10854584","cross_references":{"pubmed":["38334649"],"doi":["10.3390/cells13030257"]}}