{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wang Y"],"funding":["Cancer Research UK","The Francis Crick Institute","Medical Research Council","Wellcome Trust"],"pagination":["2554-61"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4806223"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(11)"],"pubmed_abstract":["Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes. Intriguingly, ectopic expression of Synaptotagmin 9 (SYT9), a key component of the machinery controlling neurotrophin release, bypasses the need for CSB in neuritogenesis. Importantly, brain-derived neurotrophic factor (BDNF), a neurotrophin implicated in neuronal differentiation and synaptic modulation, and pharmacological mimics such as 7,8-dihydroxyflavone and amitriptyline can compensate for CSB deficiency in cell models of neuronal differentiation as well. SYT9 and BDNF are downr"],"journal":["Cell reports"],"pubmed_title":["Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation."],"pmcid":["PMC4806223"],"funding_grant_id":["10166","11567"],"pubmed_authors":["Muotri A","Chakravarty P","Laposa RR","Svejstrup JQ","Jones-Tabah J","Stewart A","Wang Y"],"additional_accession":[]},"is_claimable":false,"name":"Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation.","description":"Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to bypass its function by expressing downstream target genes. Intriguingly, ectopic expression of Synaptotagmin 9 (SYT9), a key component of the machinery controlling neurotrophin release, bypasses the need for CSB in neuritogenesis. Importantly, brain-derived neurotrophic factor (BDNF), a neurotrophin implicated in neuronal differentiation and synaptic modulation, and pharmacological mimics such as 7,8-dihydroxyflavone and amitriptyline can compensate for CSB deficiency in cell models of neuronal differentiation as well. SYT9 and BDNF are downr","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Mar","modification":"2026-05-04T08:53:14.961Z","creation":"2019-03-27T03:10:12Z"},"accession":"S-EPMC4806223","cross_references":{"pubmed":["26972010"],"doi":["10.1016/j.celrep.2016.02.051"]}}