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

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

doi:10.1086/518770

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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

119 Citations (Scopus)

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.

Original language	English
Pages (from-to)	158-164
Number of pages	7
Journal	American Journal of Human Genetics
Volume	81
Issue number	1
DOIs	https://doi.org/10.1086/518770
Publication status	Published - Jul 2007
Externally published	Yes

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Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., Kirschner, J., Korinthenberg, R., Ketelsen, U. P., Battaloglu, E., Parman, Y., Nicholson, G., Ouvrier, R., Seeger, J., De Jonghe, P., Weis, J., Krüttgen, A., Rudnik-Schöneborn, S., Bergmann, C., ... Senderek, J. (2007). Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. American Journal of Human Genetics, 81(1), 158-164. https://doi.org/10.1086/518770

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title = "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.",

author = "Claudia Stendel and Andreas Roos and Tine Deconinck and Jorge Pereira and Fran{\c c}ois Castagner and Axel Niemann and Janbernd Kirschner and Rudolf Korinthenberg and Ketelsen, {Uwe Peter} and Esra Battaloglu and Yesim Parman and Garth Nicholson and Robert Ouvrier and J{\"u}rgen Seeger and {De Jonghe}, Peter and Joachim Weis and Alexander Kr{\"u}ttgen and Sabine Rudnik-Sch{\"o}neborn and Carsten Bergmann and Ueli Suter and Klaus Zerres and Vincent Timmerman and Relvas, {Jo{\~a}o B.} and Jan Senderek",

year = "2007",

month = jul,

doi = "10.1086/518770",

language = "English",

volume = "81",

pages = "158--164",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "University of Chicago Press",

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Stendel, C, Roos, A, Deconinck, T, Pereira, J, Castagner, F, Niemann, A, Kirschner, J, Korinthenberg, R, Ketelsen, UP, Battaloglu, E, Parman, Y, Nicholson, G, Ouvrier, R, Seeger, J, De Jonghe, P, Weis, J, Krüttgen, A, Rudnik-Schöneborn, S, Bergmann, C, Suter, U, Zerres, K, Timmerman, V, Relvas, JB & Senderek, J 2007, 'Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4', American Journal of Human Genetics, vol. 81, no. 1, pp. 158-164. https://doi.org/10.1086/518770

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T1 - Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

AU - Stendel, Claudia

AU - Roos, Andreas

AU - Deconinck, Tine

AU - Pereira, Jorge

AU - Castagner, François

AU - Niemann, Axel

AU - Kirschner, Janbernd

AU - Korinthenberg, Rudolf

AU - Ketelsen, Uwe Peter

AU - Battaloglu, Esra

AU - Parman, Yesim

AU - Nicholson, Garth

AU - Ouvrier, Robert

AU - Seeger, Jürgen

AU - De Jonghe, Peter

AU - Weis, Joachim

AU - Krüttgen, Alexander

AU - Rudnik-Schöneborn, Sabine

AU - Bergmann, Carsten

AU - Suter, Ueli

AU - Zerres, Klaus

AU - Timmerman, Vincent

AU - Relvas, João B.

AU - Senderek, Jan

PY - 2007/7

Y1 - 2007/7

N2 - 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.

AB - 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.

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AN - SCOPUS:34347213793

SN - 0002-9297

VL - 81

SP - 158

EP - 164

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -

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

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