Associated Papers
The RhoGEF protein Plekhg5 self-associates via its PH domain to regulate apical cell constriction.
Popov IK et al.
Molecular Biology of the Cell, 2024
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Chen Z et al.
European Journal of Neurology, 2021
Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.
Gonzalez-Quereda L et al.
Annals of Clinical and Translational Neurology, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Azzedine H et al.
Human Molecular Genetics, 2013
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Kim HJ et al.
Orphanet Journal of Rare Diseases, 2013
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Maystadt I et al.
American Journal of Human Genetics, 2007
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