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

doi:10.1086/518770

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Article

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

American journal of human genetics - 1 Jul 2007

Stendel Claudia, Roos Andreas, Deconinck Tine, Pereira Jorge, Castagner Francois, Niemann Axel, Kirschner Janbernd, Korinthenberg Rudolf, Ketelsen Uwe-Peter, Battaloglu Esra, Parman Yesim, Nicholson Garth, Ouvrier Robert, Seeger Jürgen, De Jonghe Peter, Weis Joachim, Krüttgen Alexander, Rudnik-Schöneborn Sabine, Bergmann Carsten, Suter Ueli, Zerres Klaus, Timmerman Vincent, Relvas João B, Senderek Jan

Abstract excerpt

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...

Topics

Adolescent
Adult
Amino Acid Sequence
Charcot-Marie-Tooth Disease
Child
Demyelinating Diseases
Female
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microfilament Proteins

Molecular Sequence Data

Mutation

Myelin Sheath

Peripheral Nerves

Schwann Cells

rho GTP-Binding Proteins

Source

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Identifiers

PMID: 17564972
DOI: 10.1086/518770
PMCID: PMC1950925

Genes

FGD4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.PMID 17564972Read ↗

Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.Semantic proximity Read ↗

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.Semantic proximity Read ↗

Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.Semantic proximity Read ↗

Imbalance of Neuregulin1-ErbB2/3 signaling underlies altered myelin homeostasis in models of Charcot-Marie-Tooth disease type 4HSemantic proximity Read ↗

Slowed conduction and thin myelination of peripheral nerves associated with mutant rho Guanine-nucleotide exchange factor 10.Semantic proximity Read ↗

ErbB2 directly activates the exchange factor Dock7 to promote Schwann cell migration.Semantic proximity Read ↗

Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H.Semantic proximity Read ↗

Mutations in dock1 disrupt early Schwann cell development.Semantic proximity Read ↗

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.Semantic proximity Read ↗

Nab proteins are essential for peripheral nervous system myelination.Semantic proximity Read ↗

GPR56/ADGRG1 regulates development and maintenance of peripheral myelin.Semantic proximity Read ↗

Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination.Semantic proximity Read ↗

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