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

Summary: Microtubule affinity-regulating kinase 4 (MARK4) is a serine/threonine kinase that plays a key role in tau phosphorylation and regulation of the mammalian target of rapamycin (mTOR) pathway. Abnormal tau phosphorylation and dysregulation of the mTOR pathway are implicated in neurodegenerati...

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Principais autores: Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P. Modi, Catherine M. Biggs, Cyrus Boelman, Lorne A. Clarke, Anna Lehman, Stuart E. Turvey
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2024-01-01
Serier:HGG Advances
Fag:
MARK4
neurodevelopmental disorder
post-translational modifications
microtubule stabilization
mTOR complex 1
Online adgang:http://www.sciencedirect.com/science/article/pii/S266624772300091X
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