.png){kind=icon}
.png){kind=icon}
Return
GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder
.png){kind=icon}
PRE
AI
V
A
L
A
G
A
A
C
E
M
M
D
E
T
A
P
M
M
O
E
S
S
M
E
F
C
M
M
DOI：10.1093/brain/awag223.png)
.png){kind=icon}
Original request for help.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
The G-protein-coupled receptor kinase-interacting protein 1, GIT1, is a multifunctional scaffold protein that plays key roles in the regulation of actin cytoskeletal dynamics, focal adhesion assembly, membrane trafficking, and intracellular signaling. In mice, loss of Git1 function causes a microcephaly-like phenotype characterized by a smaller brain due to reduced neuronal cell size, accompanied by behavioral deficits, altered gait, and impairment in motor coordination, learning and memory. To date, variants in GIT1 have not been definitely linked to human disease.
Journal
IF:
11.7
Papers:
1.4W
Citations:
6.3W
Organization
Cited Papers