Ontology highlight
ABSTRACT:
SUBMITTER: Parnell E
PROVIDER: S-EPMC9751355 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Parnell Euan E Voorn Roos A RA Martin-de-Saavedra M Dolores MD Loizzo Daniel D DD Dos Santos Marc M Penzes Peter P
Frontiers in molecular neuroscience 20221201
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 missense mutation, glu1577lys (E1577K), identified in a patient with severe developmental delay. The E1577K point mutation is located within the catalytic domain of Kalirin-7, and results in a robust reducti ...[more]