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10.1016/j.crmeth.2025.101247 http://scihub22266oqcxt.onion/10.1016/j.crmeth.2025.101247 41344325!?!41344325       Cell+Rep+Methods 2025 ; ? (?): 101247 Nephropedia Template TP {{tp|p=41344325|t=2025. Approaches for identification of 5 UTR mutations impacting translation and protein production from neurodevelopmental disorder genes |pdf=|usr=}}{{41344325}} gab.com Text Approaches for identification of 5 UTR mutations impacting translation and protein production from neurodevelopmental disorder genes JO: Cell Rep Methods http://www.kidney.de/pget.php?&tw=1&pmid=41344325 #FOAvip Coding mutations can cause neurodevelopmental disorders (NDDs), including autism. Yet, predicting which non-coding (e.g., 5' untranslated region [UTR]) mutations are functional is challenging. We tested assays of various throughput for the assessment of 997 mutations from NDD families. A massively parallel reporter assay (MPRA) using polysomes from cell lines identified >100 altering translation, with a subset subsequently altering endogenous protein production in patient lymphoblastoid cell lines. Next, since UTR function varies by cell type, we optimized Cre-dependent MPRAs, enabling assessment in neurons in vivo. We demonstrate that neurons have different principles of regulation by 5' UTRs and discover mutations altering translational activity. Finally, we tested whether polysome-MPRAs predict changes in canonical open reading frame (ORF) protein production. Only for mutations altering UTR structure was there a reasonable correlation. Overall, we benchmarked a variety of approaches for assessing impacts of 5' UTR mutation and identified functional 5' UTR mutations from known NDD genes, including LRRC4 and ZNF644. Twit Text FOAVip Approaches for identification of 5 UTR mutations impacting translation and protein production from neurodevelopmental disorder genes ????Cell Rep Methods http://www.kidney.de/pget.php?&tw=1&pmid=41344325 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=41344325 #FOAvip English Wikipedia <ref>{{Cite pmid|41344325}}</ref> Approaches for identification of 5 UTR mutations impacting translation and protein production from neurodevelopmental disorder genes #MMPMID41344325 Plassmeyer SP; Florian CP; Chase R; Kasper MJ; Mueller S; Liu Y; McFarland White K; Sierra-Cortez L; Fischer AD; Jungers CF; Djuranovic SP; Djuranovic S; Dougherty JD Cell Rep Methods 2025[Dec]; ? (?): 101247 PMID41344325show ga Coding mutations can cause neurodevelopmental disorders (NDDs), including autism. Yet, predicting which non-coding (e.g., 5' untranslated region [UTR]) mutations are functional is challenging. We tested assays of various throughput for the assessment of 997 mutations from NDD families. A massively parallel reporter assay (MPRA) using polysomes from cell lines identified >100 altering translation, with a subset subsequently altering endogenous protein production in patient lymphoblastoid cell lines. Next, since UTR function varies by cell type, we optimized Cre-dependent MPRAs, enabling assessment in neurons in vivo. We demonstrate that neurons have different principles of regulation by 5' UTRs and discover mutations altering translational activity. Finally, we tested whether polysome-MPRAs predict changes in canonical open reading frame (ORF) protein production. Only for mutations altering UTR structure was there a reasonable correlation. Overall, we benchmarked a variety of approaches for assessing impacts of 5' UTR mutation and identified functional 5' UTR mutations from known NDD genes, including LRRC4 and ZNF644. ?Approaches for identification of 5 UTR mutations impacting translatio(epmc).pdf DeepDyve Pubget Overpricing