pLEKHG5 deficiency leads to an intermediate form of autosomal-recessive charcot-marie-tooth disease

Human Molecular Genetics

Volumn 22, Issue 20, 2013, Pages 4224-4232

  Azzedine, Hamid ^a   Zavadakova, Petra ^a   Planté Bordeneuve, Violaine ^b   Pato, Maria Vaz ^c   Pinto, Nuno ^c   Bartesaghi, Luca ^a   Zenker, Jennifer ^a   Poirot, Olivier ^a   Bernard Marissal, Nathalie ^a   Gouttenoire, Estelle Arnaud ^a   Cartoni, Romain ^a   Title, Alexandra ^a   Venturini, Giulia ^a   Médard, Jean Jacques ^a   Makowski, Edward ^d   Schö ls, Ludger ^e   Claeys, Kristl G ^f,g   Stendel, Claudia ^g   Roos, Andreas ^f   Weis, Joachim ^f   Dubourg, Odile ^h   Loureiro, José Leal ^j,k   Stevanin, Giovanni ^h,i   Said, Gérard ⁱ   Amato, Anthony ^l   Baraban, Jay ^d   LeGuern, Eric ^h   Senderek, Jan ^m   Rivolta, Carlo ^a   Chrast, Roman ^a   more..

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b HENRI MONDOR HOSPITAL   (France)

^c UNIVERSITY OF BEIRA INTERIOR   (Portugal)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f RWTH AACHEN UNIVERSITY   (Germany)

^g UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^h ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^j Institute for MolecularandCellular Biology   (Portugal)

^k Centro Hospitalar Entre Douro e Vouga   (Portugal)

^l MASSACHUSETTS GENERAL HOSPITAL   (United States)

^m LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME; CHROMOSOME 1P36; CONTROLLED STUDY; FEMALE; GENE; GENE EXPRESSION; GENETIC LINKAGE; GENOTYPE; GLIA CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; KNOCKOUT MOUSE; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOTOR NEURON DISEASE; MOUSE; MUTATIONAL ANALYSIS; NERVE CELL; NERVE CONDUCTION; NONHUMAN; NUCLEOTIDE SEQUENCE; NULL ALLELE; PERIPHERAL NERVOUS SYSTEM; PLEKHG5 GENE; PREMATURITY; PRIORITY JOURNAL; STOP CODON;

ADULT; AGE OF ONSET; ANIMALS; CHARCOT-MARIE-TOOTH DISEASE; CHILD; CHROMOSOMES, HUMAN, PAIR 1; CODON, NONSENSE; FEMALE; GENES, RECESSIVE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MALE; MICE; MICE, KNOCKOUT; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION, MISSENSE; NEUROGLIA; NEURONS; YOUNG ADULT;

EID: 84884707420     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt274     Document Type: Article

References (35)

1. Skre, H. (1974) Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet., 6, 98-118.
2. Thomas, P.K. and Harding, A.E. (1993) Inherited neuropathies: the interface between molecular genetics and pathology. Brain Pathol., 3, 129-133.
3. Shy, M.E., Blake, J., Krajewski, K., Fuerst, D.R., Laura, M., Hahn, A.F., Li, J., Lewis, R.A. and Reilly, M. (2005) Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology, 64, 1209-1214.
4. Thomas, P.K. and Calne, D.B. (1974) Motor nerve conduction velocity in peroneal muscular atrophy: evidence for genetic heterogeneity. J. Neurol. Neurosurg. Psychiatry, 37, 68-75.
5. Bouche, P., Gherardi, R., Cathala, H.P., Lhermitte, F. and Castaigne, P. (1983) Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study. J. Neurol. Sci., 61, 389-399.
6. Rossi, A., Paradiso, C., Cioni, R., Rizzuto, N. and Guazzi, G. (1985) Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. J. Neurol., 232, 91-98.
7. Reilly, M.M. and Shy, M.E. (2009) Diagnosis and new treatments in genetic neuropathies. J. Neurol. Neurosurg. Psychiatry, 80, 1304-1314.
8. Saporta, A.S., Sottile, S.L., Miller, L.J., Feely, S.M., Siskind, C.E. and Shy, M.E. (2011) Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann. Neurol., 69, 22-33.
9. Madrid, R., Bradley, W.G. and Davis, C.J. (1977) The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J. Neurol. Sci., 32, 91-122.
10. Gherardi, R., Bouche, P., Escourolle, R. and Hauw, J.J. (1983) Peroneal muscular atrophy. Part 2. Nerve biopsy studies. J. Neurol. Sci., 61, 401-416.
11. Azzedine, H., Senderek, J., Rivolta, C. and Chrast, R. (2012) Molecular genetics of Charcot-Marie-Tooth disease: from genes to genomes. Mol. Syndromol., 3, 204-214.
12. Maystadt, I., Rezsohazy, R., Barkats, M., Duque, S., Vannuffel, P., Remacle, S., Lambert, B., Najimi, M., Sokal, E., Munnich,A. et al. (2007) The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am. J. Hum. Genet., 81, 67-76.
13. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.
14. Verdier, V., Csardi, G., de Preux-Charles, A.S., Medard, J.J., Smit, A.B., Verheijen, M.H., Bergmann, S. and Chrast, R. (2012) Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways. Glia, 60, 751-760.
15. De Toledo, M., Coulon, V., Schmidt, S., Fort, P. and Blangy, A. (2001) The gene for a new brain specific RhoA exchange factor maps to the highly unstable chromosomal region 1p36.2-1p36.3. Oncogene, 20, 7307-7317.
16. Marx, R., Henderson, J., Wang, J. and Baraban, J.M. (2005) Tech: a RhoA GEF selectively expressed in hippocampal and cortical neurons. J. Neurochem., 92, 850-858.
17. Verheijen, M.H., Chrast, R., Burrola, P. and Lemke, G. (2003) Local regulation of fat metabolism in peripheral nerves. Genes Dev., 17, 2450- 2464.
18. Garnaas, M.K., Moodie, K.L., Liu, M.L., Samant, G.V., Li, K., Marx, R., Baraban, J.M., Horowitz, A. and Ramchandran, R. (2008) Syx, a RhoA guanine exchange factor, is essential for angiogenesis in Vivo. Circ. Res., 103, 710-716.
19. Sakai, K. and Miyazaki, J. (1997) A transgenic mouse line that retains Cre recombinase activity in mature oocytes irrespective of the cre transgene transmission. Biochem. Biophys. Res. Commun., 237, 318-324.
20. Stendel, C., Roos, A., Deconinck, T., Pereira, J., Castagner, F., Niemann, A., Kirschner, J., Korinthenberg, R., Ketelsen, U.P., Battaloglu, E. et al. (2007) Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am. J. Hum. Genet., 81, 158-164.
21. Delague, V., Jacquier, A., Hamadouche, T., Poitelon, Y., Baudot, C., Boccaccio, I., Chouery, E., Chaouch, M., Kassouri, N., Jabbour, R. et al. (2007) Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am. J. Hum. Genet., 81, 1-16.
22. Horn, M., Baumann, R., Pereira, J.A., Sidiropoulos, P.N., Somandin, C., Welzl, H., Stendel, C., Luhmann, T., Wessig, C., Toyka, K.V. et al. (2012) Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. Brain, 135, 3567-3583.
23. Verhoeven, K., De Jonghe, P., Van de Putte, T., Nelis, E., Zwijsen, A., Verpoorten, N.,De Vriendt, E., Jacobs, A., VanGerwen, 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.
24. Estevez, M.A., Henderson, J.A., Ahn, D., Zhu, X.R., Poschmann, G., Lubbert, H., Marx, R. and Baraban, J.M. (2008) The neuronal RhoA GEF, Tech, interacts with the synaptic multi-PDZ-domain-containing protein, MUPP1. J. Neurochem., 106, 1287-1297.
25. Ngok, S.P., Geyer, R., Liu, M., Kourtidis, A., Agrawal, S., Wu, C., Seerapu, H.R., Lewis-Tuffin, L.J., Moodie, K.L., Huveldt, D. et al. (2012) VEGF and Angiopoietin-1 exert opposing effects on cell junctions by regulating the Rho GEF Syx. J. Cell Biol., 199, 1103-1115.
26. Ozcelik, M., Cotter, L., Jacob, C., Pereira, J.A., Relvas, J.B., Suter, U. and Tricaud, N. (2010) Pals1 is a major regulator of the epithelial-like polarization and the extension of the myelin sheath in peripheral nerves. J. Neurosci., 30, 4120-4131.
27. Poliak, S., Matlis, S., Ullmer, C., Scherer, S.S. and Peles, E. (2002) Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells. J. Cell Biol., 159, 361-372.
28. Cotter, L., Ozcelik, M., Jacob, C., Pereira, J.A., Locher, V., Baumann, R., Relvas, J.B., Suter, U. and Tricaud, N. (2010) Dlg1-PTEN interaction regulates myelin thickness to prevent damaging peripheral nerve overmyelination. Science, 328, 1415-1418.
29. Gutierrez,H. and Davies, A.M. (2011) Regulation of neural process growth, elaboration and structural plasticity by NF-kappaB. Trends Neurosci., 34, 316-325.
30. Nickols, J.C., Valentine, W., Kanwal, S. and Carter, B.D. (2003) Activation of the transcription factor NF-kappaB in Schwann cells is required for peripheral myelin formation. Nat. Neurosci., 6, 161-167.
31. Gudbjartsson, D.F., Jonasson, K., Frigge, M.L. and Kong, A. (2000) Allegro, a new computer program for multipoint linkage analysis. Nat. Genet., 25, 12-13.
32. Seelow, D., Schuelke, M., Hildebrandt, F. and Nurnberg, P. (2009) HomozygosityMapper-an interactive approach to homozygosity mapping. Nucleic Acids Res., 37, W593- W599.
33. de Preux, A.S., Goosen, K., Zhang, W., Sima, A.A., Shimano, H., Ouwens, D.M., Diamant, M., Hillebrands, J.L., Rozing, J., Lemke, G. et al. (2007) SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status. Mol. Cell. Neurosci., 35, 525-534.
34. de Preux Charles, A.S., Verdier, V., Zenker, J., Peter, B., Medard, J.J., Kuntzer, T., Beckmann, J.S., Bergmann, S. and Chrast, R. (2010) Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice. PLoS ONE, 5, e10832.
35. Chai, R.J., Vukovic, J., Dunlop, S., Grounds, M.D. and Shavlakadze, T. (2011) Striking denervation of neuromuscular junctions without lumbar motoneuron loss in geriatric mouse muscle. PLoS ONE, 6, e28090.