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Article

Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans.

Molecular psychiatry - 1 Jun 2024

Hassani Nia Fatemeh, Woike Daniel, Bento Isabel, Niebling Stephan, Tibbe Debora, Schulz Kristina, Hirnet Daniela, Skiba Matilda, Hönck Hans-Hinrich, Veith Katharina, Günther Christian, Scholz Tasja, Bierhals Tatjana, Driemeyer Joenna, Bend Renee, Failla Antonio Virgilio, Lohr Christian, Alai Maria Garcia, Kreienkamp Hans-Jürgen

Abstract excerpt

Postsynaptic scaffold proteins such as Shank, PSD-95, Homer and SAPAP/GKAP family members establish the postsynaptic density of glutamatergic synapses through a dense network of molecular interactions. Mutations in SHANK genes are associated with neurodevelopmental disorders including autism and intellectual disability. However, no SHANK missense mutations have been described which interfere with the key...

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Identifiers

PMID: 36450866
DOI: 10.1038/s41380-022-01882-3
PMCID: PMC11371640

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PSD

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