{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rasnitsyn A"],"funding":["Alberta Innovates","Canadian Institutes of Health Research"],"pagination":["e0178518"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5456087"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(6)"],"pubmed_abstract":["The neurodegenerative disease glaucoma is one of the leading causes of blindness in the world. Glaucoma is characterized by progressive visual field loss caused by retinal ganglion cell (RGC) death. Both surgical glaucoma treatments and medications are available, however, they only halt glaucoma progression and are unable to reverse damage. Furthermore, many patients do not respond well to treatments. It is therefore important to better understand the mechanisms involved in glaucoma pathogenesis. Patients with Axenfeld-Rieger syndrome (ARS) offer important insight into glaucoma progression. ARS patients are at 50% risk of developing early onset glaucoma and respond poorly to treatments, even when surgical treatments are combined with medications. Mutations in the transcription factor FOXC1"],"journal":["PloS one"],"pubmed_title":["FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25."],"pmcid":["PMC5456087"],"funding_grant_id":["201500029","G118160216"],"pubmed_authors":["Footz T","Seifi M","Rasnitsyn A","Doucette L","Raymond V","Walter MA"],"additional_accession":[]},"is_claimable":false,"name":"FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.","description":"The neurodegenerative disease glaucoma is one of the leading causes of blindness in the world. Glaucoma is characterized by progressive visual field loss caused by retinal ganglion cell (RGC) death. Both surgical glaucoma treatments and medications are available, however, they only halt glaucoma progression and are unable to reverse damage. Furthermore, many patients do not respond well to treatments. It is therefore important to better understand the mechanisms involved in glaucoma pathogenesis. Patients with Axenfeld-Rieger syndrome (ARS) offer important insight into glaucoma progression. ARS patients are at 50% risk of developing early onset glaucoma and respond poorly to treatments, even when surgical treatments are combined with medications. Mutations in the transcription factor FOXC1","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2025-04-22T16:46:33.272Z","creation":"2019-03-27T02:46:38Z"},"accession":"S-EPMC5456087","cross_references":{"pubmed":["28575017"],"doi":["10.1371/journal.pone.0178518"]}}