| http://purl.uniprot.org/citations/31041561 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/31041561 | http://www.w3.org/2000/01/rdf-schema#comment | "We previously reported a pathogenic de novo p.R342W mutation in the transcriptional corepressor CTBP1 in four independent patients with neurodevelopmental disabilities [1]. Here, we report the clinical phenotypes of seven additional individuals with the same recurrent de novo CTBP1 mutation. Within this cohort, we identified consistent CtBP1-related phenotypes of intellectual disability, ataxia, hypotonia, and tooth enamel defects present in most patients. The R342W mutation in CtBP1 is located within a region implicated in a high affinity-binding cleft for CtBP-interacting proteins. Unbiased proteomic analysis demonstrated reduced interaction of several chromatin-modifying factors with the CtBP1 W342 mutant. Genome-wide transcriptome analysis in human glioblastoma cell lines expressing -CtBP1 R342 (wt) or W342 mutation revealed changes in the expression profiles of genes controlling multiple cellular processes. Patient-derived dermal fibroblasts were found to be more sensitive to apoptosis during acute glucose deprivation compared to controls. Glucose deprivation strongly activated the BH3-only pro-apoptotic gene NOXA, suggesting a link between enhanced cell death and NOXA expression in patient fibroblasts. Our results suggest that context-dependent relief of transcriptional repression of the CtBP1 mutant W342 allele may contribute to deregulation of apoptosis in target tissues of patients leading to neurodevelopmental phenotypes."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.org/dc/terms/identifier | "doi:10.1007/s10048-019-00578-1"xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Chinnadurai G."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Verma S."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Subramanian T."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Au M."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Graham J.M. Jr."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Shinawi M."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Donkervoort S."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Yang M.L."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Chung W.K."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Segal D."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Beck D.B."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Bonnemann C.G."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Waggoner D."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Lakhani S."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Ortiz-Gonzalez X.R."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Dubbs H.A."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Ezekiel U.R."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/author | "Vijayalingam S."xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/date | "2019"xsd:gYear |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/name | "Neurogenetics"xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/pages | "129-143"xsd:string |
| http://purl.uniprot.org/citations/31041561 | http://purl.uniprot.org/core/title | "A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity."xsd:string |