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Drosophila Models for Human Diseases pp 97–117Cite as

Drosophila Charcot-Marie-Tooth Disease Models

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Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1076))

Abstract

Charcot-Marie-Tooth disease (CMT) was initially described in 1886. It is characterized by defects in the peripheral nervous system, including sensory and motor neurons. Although more than 80 CMT-causing genes have been identified to date, an effective therapy has not yet been developed for this disease. Since Drosophila does not have axons surrounded by myelin sheaths or Schwann cells, the establishment of a demyelinating CMT model is not appropriate. In this chapter, after overviewing CMT, examples of Drosophila CMT models with axonal neuropathy and other animal CMT models are described.

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References

  • Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, et al. Mutations in SLC25A46, encoding a UGO1-likeprotein, cause an optic atrophy spectrum disorder. Nat Genet. 2015;47:926–32.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003;72:1293–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Anzini P, Neuberg DH, Schachner M, et al. Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci. 1997;17:4545–51.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Auer-Grumbach M, De Jonghe P, Wagner K, Verhoeven K, Hartung HP, Timmerman V. Phenotype-genotype correlations in a CMT2B family with refined 3q13-q22 locus. Neurology. 2000;55:1552–7.

    Article  CAS  PubMed  Google Scholar 

  • Azzedine H, Bolino A, Taieb T, Birouk N, Di Duca M, Bouhouche A, et al. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003;72:1141–53.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Barisic N, Claeys KG, Sirotkovic-Skerlev M, Lofgren A, Nelis E, De Jonghe P, Timmerman V. Charcot-Marie-Tooth disease: a clinico-genetic confrontation. Ann Hum Genet. 2008;72:416–41.

    Article  CAS  PubMed  Google Scholar 

  • Baulac A, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noe E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, EI Hachimi KH, Meisler MH, Leguern E. Role of the phosphoinositide phosphatase FIG 4 gene in familial epilepsy with polymicrogyria. Neurology. 2014;82:1068–75.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, et al. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie- Tooth disease type 4A/8q21. Nat Genet. 2002;30:21–2.

    Article  CAS  PubMed  Google Scholar 

  • Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, et al. Connexin mutations in X-linked Charcot- Marie-Tooth disease. Science. 1993;262:2039–42.

    Article  CAS  PubMed  Google Scholar 

  • Bharadwaj R, Cunningham KM, Zhang K, Lloyd TE. FIG 4 regulates lysosome membrane homeostasis independent of phosphatase function. Hum Mol Genet. 2016;25:681–92.

    Article  CAS  PubMed  Google Scholar 

  • Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, et al. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001;68:325–33.

    Article  CAS  PubMed  Google Scholar 

  • Bogdanik LP, Sleigh JN, Tian C, Samuels ME, Bedard K, Seburn KL, Burgess RW. Loss of the E3 ubiquitin ligase LRSAM1 sensitizes peripheral axons to degeneration in a mouse model of Charcot-Marie-Tooth disease. Dis Model Mech. 2013;6:780–92.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, et al. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics. 2001;3:107–9.

    Article  CAS  PubMed  Google Scholar 

  • Bonneick S, Boentert M, Berger P, et al. An animal model for Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2005;14:3685–95.

    Article  CAS  PubMed  Google Scholar 

  • Brent JR, Werner KM, McCabe BD. Drosophila larval NMJ dissection. J Vis Exp. 2009;24. https://doi.org/10.3791/1107.

  • Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Roman Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH. Yunis–Varon syndrome is caused bymutations in FIG 4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013;92:781–91.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chapman AL, Bennett EJ, Ramesh TM, DeVos KJ, Grierson AJ. Axonal transport defects in a mitofusin 2 loss of function model of Charcot-Marie-Tooth disease in zebrafish. PLoS One. 2013;8:e67276.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Charcot JM, Marie P. Sur une forme particuliere d’atrophie musculaire progressive, souvent familiale, debutante par les pieds et les jambes et atteignant plus tard les mains. Rev Med Parie. 1886;6:97–138.

    Google Scholar 

  • Chen H, Detmer SA, Ewald AJ, Griffin EE, Fraser SE, Chan DC. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J Cell Biol. 2003;160:189–200.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chen DH, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, et al. CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene. Neurology. 2010;75:1968–75.

    Article  PubMed  PubMed Central  Google Scholar 

  • Chow CY, Zhang Y, Dowling JJ, et al. Mutation of FIG 4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007;448:68–72.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH. Deleterious variants of FIG4 a phosphoinositide phosphatase in patients with ALS. Am J Hum Genet. 2009;84:85–8.

    Article  CAS  PubMed  Google Scholar 

  • Court FA, Sherman DL, Pratt T, et al. Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves. Nature. 2004;431:191–5.

    Article  CAS  PubMed  Google Scholar 

  • Crimella C, Tonelli A, Airoldi G, Baschirotto C, D’Angelo MG, Bonato S, et al. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2 K. J Med Genet. 2010;47:712–6.

    Article  CAS  PubMed  Google Scholar 

  • d’Ydewalle C, Krishnan J, Chiheb DM, et al. HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1-induced Charcot-Marie-Tooth disease. Nat Med. 2011;17:968–74.

    Article  CAS  PubMed  Google Scholar 

  • De Jonghe P, Timmerman V, FitzPatrick D, Spoelders P, Martin JJ, Van Broeckhoven C. Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family. J Neurol Neurosurg Psychiatry. 1997;62:570–3.

    Article  PubMed  PubMed Central  Google Scholar 

  • Deng HX, Klein CJ, Yan J, Shi Y, Wu Y, Fecto F, et al. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nat Genet. 2010;42:165–9.

    Article  CAS  PubMed  Google Scholar 

  • Dequen F, Filali M, Lariviere RC, et al. Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E. Hum Mol Genet. 2010;19:2616–29.

    Article  CAS  PubMed  Google Scholar 

  • Ekins S, Litterman NK, Arnold RJ, Burgess RW, Freundlich JS, Gray SJ, Higgins JJ, Langley B, Willis DE, Notterpek L, Pleasure D, Sereda MW, Moore A. A brief review of recent Charcot-Marie-Tooth research and priorities. F1000Res. 2015;4:53. https://doi.org/10.12688/f1000research.6160.1.

    Article  PubMed  PubMed Central  Google Scholar 

  • Ermanoska B, Motley WW, et al. CMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila. Neurobiol Dis. 2014;68:180–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Eschenbacher WH, Song M, Chen Y, Bhandari P, Zhao P, Jowdy CC, Engelhard JT, Dorn GW 2nd. Two rare human mitofusin 2 mutations alter mitochondrial dynamics and induce retinal and cardiac pathology in Drosophila. PLoS One. 2012;7:e44296. https://doi.org/10.1371/journal.pone.0044296.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Estela A, Pla-Martin D, Sanchez-Piris M, Sesaki H, Palau F. Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces Cerevisiae fis1 gene-defective cells. J Biol Chem. 2011;286:36777–86.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Flederich R, Schlotter-Weigel B, Schnizer TJ, et al. A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Brain. 2012a;135:72–87.

    Article  Google Scholar 

  • Flederich R, Stassart RM, Sereda MW. Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br Med Bull. 2012b;102:89–113.

    Article  CAS  Google Scholar 

  • Gary JD, Sato TK, Stefan CJ, Bonangelino CJ, Weisman LS, Emr SD. Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase by Vac7 protein and Fig4, a polyphosphoinositide phosphatase family member. Mol Biol Cell. 2002;13:1238–51.

    Google Scholar 

  • Gillespie CS, Sherman DL, Fleetwood-Walker SM, et al. Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron. 2000;26:523–31.

    Article  CAS  PubMed  Google Scholar 

  • Gomes LC, Scorrano L. Mitochondrial morphology in mitophagy and macroautophagy. Biochim Biophys Acta. 2013;1833:205–12.

    Article  CAS  PubMed  Google Scholar 

  • Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry. 2013;84:1247–9.

    Article  PubMed  Google Scholar 

  • Goulding M. Circuits controlling vertebrate locomotion: moving in a new direction. Nat Rev Neurosci. 2009;10:507–18.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Grandis M, Leandri M, Vigo T, et al. Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease. Exp Neurol. 2004;190:213–23.

    Article  CAS  PubMed  Google Scholar 

  • Greenfield S, Brostoff S, Eylar EH, Morell P. Protein composition of myelin of the peripheral nervous system. J Neurochem. 1973;20(4):1207–16.

    Article  CAS  PubMed  Google Scholar 

  • Guilbot A, Williams A, Ravise N, Verny C, Brice A, Sherman DL, et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet. 2001;10:415–21.

    Article  CAS  PubMed  Google Scholar 

  • Hayasaka K, Himoro M, Sato W, Takada G, Uyemura K, Shimizu N, et al. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat Genet. 1993;5(1):31–4.

    Article  CAS  PubMed  Google Scholar 

  • Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, et al. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain. 2018; in press. https://doi.org/10.1093/brain/awy104. [Epub ahead of print]

  • Huotari J, Helenius A. Endosome maturation. EMBO J. 2011;30:3481–500.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Huxley C, Passage E, Manson A, et al. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet. 1996;5:563–9.

    Article  CAS  PubMed  Google Scholar 

  • Itoh K, Nakamura K, Iijima M, Sesaki H. Mitochondrial dynamics in neurodegeneration. Trends Cell Biol. 2013;23:64–71.

    Article  CAS  PubMed  Google Scholar 

  • Jordanova A, Irobi J, Thomas FP, Van DP, Meerschaert K, Dewil M, Dierick I, Jacobs A, De VE, Guergueltcheva V, et al. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006;38:197–202.

    Article  CAS  PubMed  Google Scholar 

  • Kozol RA, Abrams AJ, James DM, Buglo E, Yan Q, Dallman JE. Function over form: modeling groups of inherited neurological conditions in zebrafish. Front Mol Neurosci. 2016;9:55. https://doi.org/10.3389/fnmol.2016.00055.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Kulkens T, Bolhuis PA, Wolterman RA, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 1993;5:35–9.

    Article  CAS  PubMed  Google Scholar 

  • Kyotani A, Azuma Y, Yamamoto I, Yoshida H, Mizuta I, Mizuno T, Nakagawa M, Tokuda T, Yamaguchi M. Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development. Exp Neurol. 2016;277:86–95.

    Article  CAS  PubMed  Google Scholar 

  • Landoure G, Zdebik AA, Martinez TL, Burnett BG, Stanescu HC, Inada H, et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet. 2010;42:170–4.

    Article  CAS  PubMed  Google Scholar 

  • Latour P, Thauvin-Robinet C, Baudelet-Mery C, Soichot P, Cusin V, Faivre L, Locatelli MC, Mayencon M, Sarcey A, Broussolle E, et al. A major determinant for binding and aminoacylation of tRNA (Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet. 2010;86:77–82.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • López Del Amo V, Seco-Cervera M, García-Giménez JL, Whitworth AJ, Pallardó FV, Galindo MI. Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy. Hum Mol Genet. 2015;24:21–36.

    Google Scholar 

  • Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991;66(2):219–32.

    Article  CAS  PubMed  Google Scholar 

  • Magyar JP, Martini R, Ruelicke T, et al. Impaired differentiation of Schwann cells in trans- genic mice with increased PMP22 gene dosage. J Neurosci. 1996;16:5351–60.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Martini R, Zielasek J, Toyka KV, et al. Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies. Nat Genet. 1995;11:281–6.

    Article  CAS  PubMed  Google Scholar 

  • McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, et al. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet. 2010;87:560–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • McLean DL, Fetcho JR. Movement, technology and discovery in the zebrafish. Curr Opin Neurobiol. 2011;21:110–5.

    Article  CAS  PubMed  Google Scholar 

  • Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000;67:37–46.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, et al. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry. 2012;83:706–10.

    Article  PubMed  Google Scholar 

  • Niehues S, Bussmann J, Steffes G, Erdmann I, Köhrer C, Sun L, Wagner M, Schäfer K, Wang G, Koerdt SN, Stum M, Jaiswal S, RajBhandary UL, Thomas U, Aberle H, Burgess RW, Yang XL, Dieterich D, Storkebaum E. Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases. Nat Commun. 2016;7:10497. https://doi.org/10.1038/ncomms10497.

  • Niemann A, Ruegg M, La Padula V, Schenone A, Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol. 2005;170:1067–78.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Pareyson D, Saveri P, Pisciotta C. New developments in Charcot-Marie-Tooth neuropathy and related diseases. Curr Opin Neurol. 2017;30:471–80.

    Article  CAS  PubMed  Google Scholar 

  • Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F. GDAP1, the protein causing Charcot-Marie-Tooth disease type4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet. 2005;14:1087–94.

    Article  CAS  PubMed  Google Scholar 

  • Pla-Martin D, Rueda CB, Estela A, Sanchez-Piris M, Gonzalez-Sanchez P, Traba J, de la Fuente S, Scorrano L, Renau-Piqueras J, Alvarez J, et al. Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry. Neurobiol Dis. 2013;55:140–51.

    Article  CAS  PubMed  Google Scholar 

  • Robertson AM, Perea J, McGuigan A, et al. Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A. J Anat. 2002;200:377–90.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Saifi GM, Szigeti K, Snipes GJ, Garcia CA, Lupski JR. Molecular mechanisms, diagnosis, and rational approaches to management of and therapy for Charcot-Marie-Tooth disease and related peripheral neuropathies. J Investig Med. 2003;51:261–83.

    Article  CAS  PubMed  Google Scholar 

  • Sanchis-Gomar F, Garcia-Gimenez JL, Gomez-Cabrera MC, Pallardo FV. Mitochondrial biogenesis in health and disease. Molecular and therapeutic approaches. Curr Pharm Des. 2014;20:5619. https://doi.org/10.2174/1381612820666140306095106.

    Article  PubMed  CAS  Google Scholar 

  • Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME. Charcot-marie-tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011;69:22–33.

    Article  PubMed  PubMed Central  Google Scholar 

  • Sbrissa D, Ikonomov OC, Fu Z, Ijuin T, Gruenberg J, Takenawa T, Shisheva A. Core protein machinery for mammalian phosphatidylinositol 3,5-bisphosphate synthesis and turnover that regulates the progression of endosomal transport. J Biol Chem. 2007;282:23878–91.

    Article  CAS  PubMed  Google Scholar 

  • Scherer SS, Xu YT, Nelles E, et al. Connexin32-null mice develop demyelinating peripheral neuropathy. Glia. 1998;24:8–20.

    Article  CAS  PubMed  Google Scholar 

  • Schroder JM. Neuropathology of Charcot-Marie-Tooth and related disorders. NeuroMolecular Med. 2006;8:23–42.

    Article  CAS  PubMed  Google Scholar 

  • Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, et al. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain. 2003;126:642–9.

    Article  PubMed  Google Scholar 

  • Sereda M, Griffiths I, Puhlhofer A, et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron. 1996;16:1049–60.

    Article  CAS  PubMed  Google Scholar 

  • Siskind CE, Panchal S, Smith CO, Feely SM, Dalton JC, Schindler AB, Krajewski KM. A review of genetic counseling for Charcot Marie Tooth disease (CMT). J Genet Couns. 2013;22(4):422–36.

    Article  PubMed  Google Scholar 

  • Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth’s disease. Clin Genet. 1974;6(2):98–118.

    Article  CAS  PubMed  Google Scholar 

  • Storkebaum E, et al. Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy. Proc Natl Acad Sci U S A. 2009;106:11782–7.

    Article  Google Scholar 

  • Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, et al. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology. 2003;60:22–6.

    Article  CAS  PubMed  Google Scholar 

  • Strickland AV, Rebelo AP, Zhang F, Price J, Bolon B, Silva JP, et al. Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model. J Peripher Nerv Syst. 2014;19:152–64.

    Article  CAS  PubMed  Google Scholar 

  • Tooth HH. The peroneal type of progressive muscular atrophy. London: Lewis; 1886.

    Google Scholar 

  • Vaccari I, Dina G, Tronchere H, et al. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. PLoS Genet. 2012;7:e1002319.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Verhoeven K, De Jonghe P, Coen K, Verpoorten N, Auer- Grumbach M, Kwon JM, et al. Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie- Tooth type 2B neuropathy. Am J Hum Genet. 2003;72:722–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Verstreken P, Ly CV, Venken KJ, Koh TW, Zhou Y, Bellen HJ. Synaptic mitochondria are critical for mobilization of reserve pool vesicles at Drosophila neuromuscular junctions. Neuron. 2005;47:365–78.

    Article  CAS  PubMed  Google Scholar 

  • Vester A, Velez-Ruiz G, McLaughlin HM, Lupski JR, Talbot K, Vance JM, Zuchner S, Roda RH, Fischbeck KH, Biesecker LG, et al. A loss-offunction variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum Mutat. 2013;34:191–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet CA. French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations. Neuromuscul Disord. 2012;22:735–41.

    Article  PubMed  Google Scholar 

  • Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, et al. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998;18:382–4.

    Article  CAS  PubMed  Google Scholar 

  • Wrabetz L, D’Antonio M, Pennuto M, et al. Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J Neurosci. 2006;26:2358–68.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Yoshihara T, Yamamoto M, Hattori N, Misu K-i, Mori K, Koike H, Sobue G. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J Peripher Nerv Syst. 2002;7(4):221–4.

    Article  CAS  PubMed  Google Scholar 

  • Zuchner S, Vance JM. Molecular genetics of autosomal- dominant axonal Charcot-Marie-Tooth disease. NeuroMolecular Med. 2006;8:63–74.

    Article  CAS  PubMed  Google Scholar 

  • Zuchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, et al. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet. 2004;36:449–51.

    Article  CAS  PubMed  Google Scholar 

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  1. Department of Applied Biology, Kyoto Institute of Technology, Kyoto, Japan

    Masamitsu Yamaguchi

  2. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan

    Hiroshi Takashima

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    Masamitsu Yamaguchi

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Yamaguchi, M., Takashima, H. (2018). Drosophila Charcot-Marie-Tooth Disease Models. In: Yamaguchi, M. (eds) Drosophila Models for Human Diseases. Advances in Experimental Medicine and Biology, vol 1076. Springer, Singapore. https://doi.org/10.1007/978-981-13-0529-0_7

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