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Article

Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models

2023-09-13

Abstract excerpt

<h4>One sentence summary</h4> This study describes the use of SHANK3 deficient stem cell-derived neuronal models to screen and characterize small molecules that partially rescued developmental and synaptic defects related to Phelan-McDermid syndrome (PMDS). Phelan-McDermid syndrome (PMDS) arises from mutations in the terminal region of chromosome 22q13, impacting the SHANK3 gene. The resulting deficiency of the...

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Literature Corpus work
97d9f582-d8f7-55e7-b29f-bdaec017caf1
DOI
10.1101/2023.09.13.557523
Open publication

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Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal modelsDOI 10.1101/2023.09.13.557523
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