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Article

Presynaptic dysfunction in CASK-related neurodevelopmental disorders.

Translational psychiatry - 14 Sept 2020

Becker Martin, Mastropasqua Francesca, Reising Jan Philipp, Maier Simon, Ho Mai-Lan, Rabkina Ielyzaveta, Li Danyang, Neufeld Janina, Ballenberger Lea, Myers Lynnea, Moritz Viveka, Kele Malin, Wincent Josephine, Willfors Charlotte, Sitnikov Rouslan, Herlenius Eric, Anderlid Britt-Marie, Falk Anna, Bölte Sven, Tammimies Kristiina

Abstract excerpt

CASK-related disorders are genetically defined neurodevelopmental syndromes. There is limited information about the effects of CASK mutations in human neurons. Therefore, we sought to delineate CASK-mutation consequences and neuronal effects using induced pluripotent stem cell-derived neurons from two mutation carriers. One male case with autism spectrum disorder carried a novel splice-site mutation and a female...

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Identifiers

PMID: 32929080
DOI: 10.1038/s41398-020-00994-0
PMCID: PMC7490425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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