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

American Journal of Human Genetics

Volumn 81, Issue 1, 2007, Pages 158-164

  Stendel, Claudia ^a,b   Roos, Andreas ^b   Deconinck, Tine ^c,d   Pereira, Jorge ^a   Castagner, François ^a   Niemann, Axel ^a   Kirschner, Janbernd ^f   Korinthenberg, Rudolf ^f   Ketelsen, Uwe Peter ^f   Battaloglu, Esra ^g   Parman, Yesim ^h   Nicholson, Garth ⁱ   Ouvrier, Robert ^j   Seeger, Jürgen ^k   De Jonghe, Peter ^c,e   Weis, Joachim ^b   Krüttgen, Alexander ^b   Rudnik Schöneborn, Sabine ^b   Bergmann, Carsten ^b   Suter, Ueli ^a   Zerres, Klaus ^b   Timmerman, Vincent ^c   Relvas, João B ^a   Senderek, Jan ^b   more..

^a ETH ZURICH   (Switzerland)

^b RWTH AACHEN UNIVERSITY   (Germany)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY OF FREIBURG   (Germany)

^g BOGAZICI UNIVERSITY   (Turkey)

^h ISTANBUL UNIVERSITY   (Turkey)

ⁱ UNIVERSITY OF SYDNEY   (Australia)

^j CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^k DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FRABIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; PROTEIN CDC42; RHO GUANINE NUCLEOTIDE BINDING PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL SHAPE; DEMYELINATION; ENZYME ACTIVITY; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN INDUCTION; SCHWANN CELL; SIGNAL TRANSDUCTION;

VERTEBRATA;

EID: 34347213793     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/518770     Document Type: Article

References (38)

1. ClustalW, http://www.ebi.ac.uk/clustalw/
2. dbSNP, http://www.ncbi.nlm.nih.gov/SNP/
3. FSPLICE, http://softberry.com/berry.phtml?topic=fsplice&group =programs&subgroup=gfind
4. GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for Homo sapiens FGD4 [accession number NM_139241] and Mus mus culus Fgd4 [accession number NM_139232])
5. Inherited Peripheral Neuropathy Mutation Database, http://www .molgen.ua.ac.be/CMTMutations/
6. NNSplice, http://www.fruitfly.org/seq_tools/splice.html
7. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi .nlm.nih.gov/Omim/ (for CMT2B2, CMT4H, HMSNR, CMTDIA, CMT2G, CMT2C, faciogenital dysplasia/Aarskog syndrome, MTMR2, and SBF2/MTMR13)
8. Primer3, http://frodo.wi.mit.edu/cgi-bin/primer3/primer3_www .cgi
9. SPL, http://softberry.com/berry.phtml?topic=spl&group =programs&subgroup=gfind
10. UCSC Genome Browser, http://genome.ucsc.edu/
11. WebGene, http://125.itba.mi.cnr.it/~webgene/wwwspliceview.html
12. Skre H (1974) Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin Genet 6:98-118
13. Dyck PJ, Chance P, Lebo R, Carney JA (1993) Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds) Peripheral neuropathy. WB Saunders, Philadelphia, pp 1094-1136
14. Berger P, Niemann A, Suter U (2006) Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia 54:243-257
15. Niemann A, Berger P, Suter U (2006) Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med 8:217-242
16. Suter U, Scherer SS (2003) Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 4:714-726
17. Jessen KR, Mirsky R (2005) The origin and development of glial cells in peripheral nerves. Nat Rev Neurosci 6:671-682
18. Lobsiger CS, Taylor V, Suter U (2002) The early life of a Schwann cell. Biol Chem 383:245-253
19. Etienne-Manneville S, Hall A (2002) Rho GTPases in cell biology. Nature 420:629-635
20. Boguski MS, McCormick F (1993) Proteins regulating Ras and its relatives. Nature 366:643-654
21. Verhoeven K, De Jonghe P, Van de Putte T, Nelis E, Zwijsen A, Verpoorten N, De Vriendt E, Jacobs A, Van Gerwen V, Francis A, et al (2003) Slowed conduction and thin myelination of peripheral nerves associated with mutant Rho guanine-nucleotide exchange factor 10. Am J Hum Genet 73:926-932
22. Obaishi H, Nakanishi H, Mandai K, Satoh K, Satoh A, Takahashi K, Miyahara M, Nishioka H, Takaishi K, Takai Y (1998) Frabin, a novel FGD1-related actin filament-binding protein capable of changing cell shape and activating c-Jun N-terminal kinase. J Biol Chem 273:18697-700
23. Umikawa M, Obaishi H, Nakanishi H, Satoh-Horikawa K, Takahashi K, Hotta I, Matsuura Y, Takai Y (1999) Association of frabin with the actin cytoskeleton is essential for microspike formation through activation of Cdc42 small G protein. J Biol Chem 274:25197-25200
24. De Sandre-Giovannoli A, Delague V, Hamadouche T, Chaouch M, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, et al (2005) Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. J Med Genet 42:260-265
25. Yasuda T, Ohtsuka T, Inoue E, Yokoyama S, Sakisaka T, Kodama A, Takaishi K, Takai Y (2000) Importance of spatial activation of Cdc42 and rac small G proteins by frabin for microspike formation in MDCK cells. Genes Cells 5:583-591
26. Kim Y, Ikeda W, Nakanishi H, Tanaka Y, Takekuni K, Itoh S, Monden M, Takai Y (2002) Association of frabin with specific actin and membrane structures. Genes Cells 7:413-420
27. Nakahara H, Otani T, Sasaki T, Miura Y, Takai Y, Kogo M (2003) Involvement of Cdc42 and Rac small G proteins in invadopodia formation of RPMI7951 cells. Genes Cells 8:1019-1027
28. Pasteris NG, Cadle A, Logie LJ, Porteous ME, Schwartz CE, Stevenson RE, Glover TW, Wilroy RS, Gorski JL (1994) Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 79:669-678
29. Zheng Y, Fischer DJ, Santos MF, Tigyi G, Pasteris NG, Gorski JL, Xu Y (1996) The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. J Biol Chem 271:33169-33172
30. Thurnherr T, Benninger Y, Wu X, Chrostek A, Krause SM, Nave KA, Franklin RJ, Brakebusch C, Suter U, Relvas JB (2006) Cdc42 and Rac1 signaling are both required for and act synergistically in the correct formation of myelin sheaths in the CNS. J Neurosci 26:10110-10119
31. Berger P, Schaffitzel C, Berger I, Ban N, Suter U (2003) Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module. Proc Natl Acad Sci USA 100: 12177-12182
32. Berger P, Bonneick S, Willi S, Wymann M, Suter U (2002) Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet 11:1569-1579
33. Pendaries C, Tronchere H, Plantavid M, Payrastre B (2003) Phosphoinositide signaling disorders in human diseases. FEBS Lett 546:25-31
34. Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U (2006) Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet 15:569-579
35. Han J, Luby-Phelps K, Das B, Shu X, Xia Y, Mosteller RD, Krishna UM, Falck JR, White MA, Broek D (1998) Role of substrates and products of PI 3-kinase in regulating activation of Rac-related guanosine triphosphatases by Vav. Science 279: 558-560
36. Russo C, Gao Y, Mancini P, Vanni C, Porotto M, Falasca M, Torrisi MR, Zheng Y, Eva A (2001) Modulation of oncogenic DBL activity by phosphoinositol phosphate binding to pleckstrin homology domain. J Biol Chem 276:19524-19531
37. Snyder JT, Rossman KL, Baumeister MA, Pruitt WM, Siderovski DP, Der CJ, Lemmon MA, Sondek J (2001) Quantitative analysis of the effect of phosphoinositide interactions on the function of Dbl family proteins. J Biol Chem 276:45868-45875
38. Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, et al (2006) Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med 8:75-86