Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4
| Autor: | Joachim Weis, Klaus Zerres, Uwe Peter Ketelsen, Sabine Rudnik-Schöneborn, Janbernd Kirschner, Axel Niemann, Garth A. Nicholson, Jan Senderek, Jürgen Seeger, Yesim Parman, Esra Battaloglu, Alexander Krüttgen, Claudia Stendel, François Castagner, Rudolf Korinthenberg, Vincent Timmerman, Carsten Bergmann, Tine Deconinck, Jorge A. Pereira, Robert A. Ouvrier, João B. Relvas, Ueli Suter, Andreas Roos, Peter De Jonghe |
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| Rok vydání: | 2007 |
| Předmět: |
Adult
Male rho GTP-Binding Proteins Nervous system Adolescent Molecular Sequence Data Mutant CDC42 GTPase Biology Charcot-Marie-Tooth Disease Report medicine Genetics Humans Genetics(clinical) Amino Acid Sequence Peripheral Nerves Child Myelin Sheath Genetics (clinical) Microfilament Proteins dGTPase Transfection Cell biology medicine.anatomical_structure Biochemistry Peripheral nervous system Mutation Female Schwann Cells Guanine nucleotide exchange factor Demyelinating Diseases |
| Zdroj: | The American journal of human genetics |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/518770 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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