Search Results - "Susco, Sara G."
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High-content synaptic phenotyping in human cellular models reveals a role for BET proteins in synapse assembly
Published in eLife (21-04-2023)“…Resolving fundamental molecular and functional processes underlying human synaptic development is crucial for understanding normal brain function as well as…”
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Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models
Published in Cell reports (Cambridge) (06-09-2022)“…Down syndrome (DS), driven by an extra copy of chromosome 21 (HSA21), and fragile X syndrome (FXS), driven by loss of the RNA-binding protein FMRP, are two…”
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FMR1 loss in a human stem cell model reveals early changes to intrinsic membrane excitability
Published in Developmental biology (01-12-2020)“…Fragile X mental retardation 1 (FMR1) encodes the RNA binding protein FMRP. Loss of FMRP drives Fragile X syndrome (FXS), the leading inherited cause of…”
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Journal Article