Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

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 ce...

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Veröffentlicht in:	American journal of human genetics 2007-07, Vol.81 (1), p.158-164
Hauptverfasser:	Stendel, Claudia, Roos, Andreas, Deconinck, Tine, Pereira, Jorge, Castagner, François, 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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Amino Acid Sequence Biological and medical sciences Cell division Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - pathology Child Demyelinating Diseases - genetics Demyelinating Diseases - pathology Enzymes Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics Genetics of eukaryotes. Biological and molecular evolution Humans Male Medical genetics Medical sciences Microfilament Proteins - analysis Microfilament Proteins - genetics Molecular and cellular biology Molecular Sequence Data Mutation Myelin Sheath - enzymology Myelin Sheath - pathology Nervous system Neurons Pathology Peripheral Nerves - enzymology Peripheral Nerves - pathology rho GTP-Binding Proteins - analysis rho GTP-Binding Proteins - genetics Schwann Cells - enzymology Schwann Cells - pathology
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