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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Autors principals:	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
Idioma:	Inglês
Publicat:	Elsevier 2024-01-01
Col·lecció:	HGG Advances
Matèries:	MARK4 neurodevelopmental disorder post-translational modifications microtubule stabilization mTOR complex 1
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S266624772300091X
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