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...
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: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fnmol.2022.994513/full |
Similar Items
-
Dendritic spinule-mediated structural synaptic plasticity: Implications for development, aging, and psychiatric disease
by: Colleen R. Zaccard, et al.
Published: (2023-01-01) -
Palmitoylation controls the stability of 190 kDa ankyrin-G in dendritic spines and is regulated by ZDHHC8 and lithium
by: Nicolas H. Piguel, et al.
Published: (2023-03-01) -
NMDA Receptor and Its Emerging Role in Cancer
by: Simona Gallo, et al.
Published: (2023-01-01) -
Early developmental deletion of forebrain Ank2 causes seizure-related phenotypes by reshaping the synaptic proteome
by: Sehyoun Yoon, et al.
Published: (2023-07-01) -
Comparison of induced neurons reveals slower structural and functional maturation in humans than in apes
by: Maria Schörnig, et al.
Published: (2021-01-01)