Unknown

Dataset Information

0

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

ABSTRACT: GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated by a set of specific guanine nucleotide exchange factors (GEFs). Here, we report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy. These data, together with the ability of frabin to induce Cdc42-mediated cell-shape changes in transfected Schwann cells, suggest that Rho GTPase signaling is essential for proper myelination of the peripheral nervous system.

SUBMITTER: Stendel C 

PROVIDER: S-EPMC1950925 | biostudies-literature | 2007 Jul

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

GTPases of the Rho subfamily are widely involved in the myelination of the vertebrate nervous system. Rho GTPase activity is temporally and spatially regulated by a set of specific guanine nucleotide exchange factors (GEFs). Here, we report that disruption of frabin/FGD4, a GEF for the Rho GTPase cell-division cycle 42 (Cdc42), causes peripheral nerve demyelination in patients with autosomal recessive Charcot-Marie-Tooth (CMT) neuropathy. These data, together with the ability of frabin to induce  ...[more]

Similar Datasets

Transcriptomics Extracellular Superoxide Dismutase Regulates the Expression of GTPase Guanine Nucleotide Exchange Factors (GEFs), GTPase-activating proteins (GAPs), and Rho Guanine nucleotide disassociation inhibitors (GDI)
2014-12-31 | GSE56546 | GEO
Unknown Rho guanine nucleotide exchange factors: regulators of Rho GTPase activity in development and disease.
| S-EPMC4875565 | biostudies-other
Unknown Scambio, a novel guanine nucleotide exchange factor for Rho.
| S-EPMC420252 | biostudies-literature
Unknown Structure of the Rho-specific guanine nucleotide-exchange factor Xpln.
| S-EPMC3509964 | biostudies-literature
Unknown Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.
| S-EPMC1180612 | biostudies-literature
Unknown Small-molecule inhibitors targeting G-protein-coupled Rho guanine nucleotide exchange factors.
| S-EPMC3581902 | biostudies-literature
Transcriptomics Rho Guanine Nucleotide Exchange Factor ARHGEF10 is a putative tumor suppressor in pancreatic ductal adenocarcinoma
2019-09-05 | GSE131859 | GEO
Unknown Identification of a negative regulatory region for the exchange activity and characterization of T332I mutant of Rho guanine nucleotide exchange factor 10 (ARHGEF10).
| S-EPMC3190991 | biostudies-literature
Unknown Structure and function of heterotrimeric G protein-regulated Rho guanine nucleotide exchange factors.
| S-EPMC2812070 | biostudies-literature
Unknown Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms.
| S-EPMC6141028 | biostudies-literature