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Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
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. Stendel C, et al. Among authors: relvas jb. Am J Hum Genet. 2007 Jul;81(1):158-64. doi: 10.1086/518770. Epub 2007 May 24. Am J Hum Genet. 2007. PMID: 17564972 Free PMC article.
Profilin 1 is required for peripheral nervous system myelination.
Montani L, Buerki-Thurnherr T, de Faria JP, Pereira JA, Dias NG, Fernandes R, Gonçalves AF, Braun A, Benninger Y, Böttcher RT, Costell M, Nave KA, Franklin RJ, Meijer D, Suter U, Relvas JB. Montani L, et al. Among authors: relvas jb. Development. 2014 Apr;141(7):1553-61. doi: 10.1242/dev.101840. Epub 2014 Mar 5. Development. 2014. PMID: 24598164
101 results