CaMKIIα phosphorylation of Shank3 modulates ABI1-Shank3 interaction

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SHANK3, the synapse, and autism.

Autism spectrum disorders present a paradox of great heterogeneity and great specificity. Well over 100 genetic disorders yield an autism phenotype,1 most through specific but distinct mechanisms, and many of which affect the synapse. SHANK3 (SH3 and multiple ankyrin repeat domains 3) is known to be disrupted in the 22q13 deletion syndrome (Phelan–McDermid syndrome), and variants of SHANK3 have...

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Recent molecular genetic studies have identified 100s of risk genes for various neurodevelopmental and neuropsychiatric disorders. As the number of risk genes increases, it is becoming clear that different mutations of a single gene could cause different types of disorders. One of the best examples of such a gene is SHANK3, which encodes a core scaffold protein of the neuronal excitatory post-s...

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ژورنال

عنوان ژورنال: Biochemical and Biophysical Research Communications

سال: 2020

ISSN: 0006-291X

DOI: 10.1016/j.bbrc.2020.01.089