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Article

"SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration".

Molecular psychiatry - 1 Jun 2026

Varella-Branco Elisa, Shephard Elizabeth, Toledo Victor H C, Ramos Igor C, Lacerda Ellen C M, Carvalho Laura L M, Fiuza Marcella A, Paschalidis Mayara, Costa Claudia I S, Girardi Ana C S, Krepischi Ana C V, Casella Erasmo B, Polanczyk Guilherme, Griesi-Oliveira Karina, Papes Fabio, Alvizi Lucas, Kobayashi Gerson S, Dos Santos E Passos Bueno Maria Rita

Abstract excerpt

Phelan-McDermid Syndrome (PMS), primarily linked to SHANK3 haploinsufficiency, presents with complex neurodevelopmental features, including developmental regression, whose underlying mechanisms are poorly understood. This study investigated the impact of SHANK3 disruption across multiple levels, from gene expression in patient-derived iPSC neurons to in vivo brain network activity. RNA-sequencing of iPSC-derived...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41620577
DOI: 10.1038/s41380-025-03433-y
PMCID: PMC13190290

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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