A developmental delay linked missense mutation in Kalirin-7 disrupts protein function and neuronal morphology

A developmental delay linked missense mutation in Kalirin-7 disrupts protein function and neuronal morphology

The Rac1 guanine exchange factor Kalirin-7 is a key regulator of dendritic spine morphology, LTP and dendritic arborization. Kalirin-7 dysfunction and genetic variation has been extensively linked to various neurodevelopmental and neurodegenerative disorders. Here we characterize a Kalirin-7 missens...

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Bibliographic Details
Main Authors: Euan Parnell, Roos A. Voorn, M. Dolores Martin-de-Saavedra, Daniel D. Loizzo, Marc Dos Santos, Peter Penzes
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Molecular Neuroscience
Subjects:
developmental delay
neuron
spine
NMDAr
neurodevelopment
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.994513/full

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https://www.frontiersin.org/articles/10.3389/fnmol.2022.994513/full

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