PMC:7281900 / 2038-2943
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/7281900","sourcedb":"PMC","sourceid":"7281900","source_url":"https://www.ncbi.nlm.nih.gov/pmc/7281900","text":"MEK-ERK and MNK-eIF4E pathways regulate protein translation, and our results suggest that aberrant translation distinct in TSC1/2-deficient NPCs could play a role in neurodevelopmental defects. Our data showing upregulation of these signaling pathways by rapamycin support a strategy to combine an MEK or an MNK inhibitor with rapamycin that may be superior for TSC-associated central nervous system defects. Importantly, our generation of isogenic sets of NPCs from patients with TSC provides a valuable platform for translatome and large-scale drug screening studies. Overall, our studies further support the notion that early developmental events such as NPC proliferation and initial process formation, such as neurite number and length that occur prior to neuronal differentiation, represent primary events in neurogenesis critical to disease pathogenesis of neurodevelopmental disorders such as ASD.","tracks":[{"project":"testtesttest","denotations":[{"id":"T7","span":{"begin":377,"end":399},"obj":"Body_part"},{"id":"T8","span":{"begin":540,"end":545},"obj":"Body_part"},{"id":"T9","span":{"begin":662,"end":675},"obj":"Body_part"},{"id":"T10","span":{"begin":688,"end":695},"obj":"Body_part"},{"id":"T11","span":{"begin":715,"end":722},"obj":"Body_part"}],"attributes":[{"id":"A7","pred":"uberon_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/UBERON_0001017"},{"id":"A8","pred":"uberon_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/UBERON_0002542"},{"id":"A9","pred":"uberon_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/UBERON_2000098"},{"id":"A10","pred":"uberon_id","subj":"T10","obj":"http://purl.obolibrary.org/obo/UBERON_0004529"},{"id":"A11","pred":"uberon_id","subj":"T11","obj":"http://purl.obolibrary.org/obo/GO_0043005"},{"subj":"T7","pred":"source","obj":"testtesttest"},{"subj":"T8","pred":"source","obj":"testtesttest"},{"subj":"T9","pred":"source","obj":"testtesttest"},{"subj":"T10","pred":"source","obj":"testtesttest"},{"subj":"T11","pred":"source","obj":"testtesttest"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"testtesttest","color":"#ecbd93","default":true}]}]}}