Article

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

2023-08-29

Abstract excerpt

Microtubule affinity regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mTOR pathway. Abnormal tau phosphorylation and dysregulation of the mTOR pathway are implicated in neurodegenerative and neurodevelopmental disorders. Here, we report a novel gain-of-function variant in MARK4 in two siblings with childhood-onset neurodevelopmental disabil...

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Literature Corpus work: 73e24ff9-2765-54b9-a792-514d7f739cac
DOI: 10.1101/2023.08.25.23294399

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