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

• Type: Article in International Scientific Journal
• Date: 2007

Authors

Stendel, C (Author) Other; Roos, A (Author) Other; Deconinck, T (Author) Other; Pereira, J (Author) Other; Castagner, F (Author) Other; Niemann, A (Author) Other; Kirschner, J (Author) Other; Korinthenberg, R (Author) Other; Ketelsen, UP (Author) Other; Battaloglu, E (Author) Other; Parman, Y (Author) Other; Nicholson, G (Author) Other; Ouvrier, R (Author) Other; Seeger, J (Author) Other; De Jonghe, P (Author) Other; Weis, J (Author) Other; Kruettgen, A (Author) Other; Rudnik Schoeneborn, S (Author) Other; Bergmann, C (Author) Other; Suter, U (Author) Other; Zerres, K (Author) Other; Timmerman, V (Author) Other; Relvas, JB (Author) Other; Senderek, J (Author) Other

Journal

Title: American Journal of Human Genetics

Vol. 81

Pages: 158-164

ISSN: 0002-9297

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 84 Citations

Scopus - 104 Citations

Other information

Authenticus ID: P-00F-T7T

DOI: 10.1086/518770

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7