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Publication : TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

First Author	van Woerden GM	Year	2021
Journal	Hum Mutat	Volume	42
Issue	4	Pages	445-459
PubMed ID	33565190	Mgi Jnum	J:324090
Mgi Id	MGI:6707836	Doi	10.1002/humu.24176
Citation	van Woerden GM, et al. (2021) TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Hum Mutat 42(4):445-459

abstractText

Thousand and one amino-acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen-activated protein kinase pathways, thereby modulating a multitude of processes in the cell. Given the recent finding of TAOK1 involvement in neurodevelopmental disorders (NDDs), we investigated the role of TAOK1 in neuronal function and collected a cohort of 23 individuals with mostly de novo variants in TAOK1 to further define the associated NDD. Here, we provide evidence for an important role for TAOK1 in neuronal function, showing that altered TAOK1 expression levels in the embryonic mouse brain affect neural migration in vivo, as well as neuronal maturation in vitro. The molecular spectrum of the identified TAOK1 variants comprises largely truncating and nonsense variants, but also missense variants, for which we provide evidence that they can have a loss of function or dominant-negative effect on TAOK1, expanding the potential underlying causative mechanisms resulting in NDD. Taken together, our data indicate that TAOK1 activity needs to be properly controlled for normal neuronal function and that TAOK1 dysregulation leads to a neurodevelopmental disorder mainly comprising similar facial features, developmental delay/intellectual disability and/or variable learning or behavioral problems, muscular hypotonia, infant feeding difficulties, and growth problems.

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