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Myelin disorders

Causes and perspectives of Charcot-Marie-Tooth neuropathy

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Abstract

Charcot-Marie-Tooth (CMT) disease is a common hereditary neuropathy that causes progressive distally pronounced muscle weakness and can lead to life-long disability in patients. In most cases, the disorder has been associated with a partial duplication of human chromosome 17 (CMT1A), causing 1.5-fold overexpression of the peripheral myelin protein 22 kDa (PMP22). Increased PMP22 gene dosage results in demyelination, sectiondary axonal loss, and neurogenic muscle atrophy. Experimental therapeutic approaches based on the role of progesterone and ascorbic acid in myelin formation recently have reached preclinical proof-of-principle trials in rodents. It was shown that progesterone receptor antagonists can reduce PMP22 overexpression and clinical severity in a CMT1A rat model. Furthermore, ascorbic acid treatment reduced premature death and demyelination in a CMT1A mouse model. Thus, basic research has opened up new vistas for the understanding and treatment of hereditary neuropathies.

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References

  • Akwa Y., Purdy R. H., Koob G. F., and Britton K. T. (1999) The amygdala mediates the anxiolytic-like effect of the neurosteroid allopregnanolone in rat. Behav. Brain Res. 106 (1–2), 119–125.

    Article  PubMed  CAS  Google Scholar 

  • Anderson T. J., Schneider A., Barrie J. A., Klugmann M., McCulloch M. C., Kirkham D., et al. (1998) Late-onset neurodegeneration in mice with increased dosage of the proteolipid protein gene. J. Comp. Neurol. 394(4), 506–519.

    Article  PubMed  CAS  Google Scholar 

  • Baulieu E. E., Robel P., and Schumacher M. (2001) Neurosteroids: beginning of the story. Int. Rev. Neurobiol. 46, 1–32.

    Article  PubMed  CAS  Google Scholar 

  • Beato M. (1989) Gene regulation by steroid hormones. Cell 56(3), 335–344.

    Article  PubMed  CAS  Google Scholar 

  • Birouk, N., Gouider R., Le Guern E, Gugenheim M., Tardieu S., Maisonobe T., et al. (1997) Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 120(Pt. 5), 813–823.

    Article  PubMed  Google Scholar 

  • Bullock A. E., Clark, A. L., Grady S. R., Robinson S. F., Slobe B. S., Marks M. J., and Collins A. C. (1997) Neurosteroids modulate nicotinic receptor function in mouse striatal and thalamic synaptosomes. J. Neurochem. 68(6), 2412–2423.

    PubMed  CAS  Google Scholar 

  • Carey D. J. and Todd M. S. (1987) Schwann cell myelination ina chemically defined medium: demonstration of a requirement for additives that promote Schwann cell extracellular matrix formation. Brain Res. 429(1): 95–102.

    PubMed  CAS  Google Scholar 

  • Chan J. R., Phillips, L. J. II, and Glaser M. (1998) Glucocorticoids and progestins signal the initiation and enhance the rate of myelin formation. Proc. Natl. Acad. Sci. U. S. A. 95(18), 10459–10464.

    Article  PubMed  CAS  Google Scholar 

  • Chen H., Detmer S. A., Ewald A. J., Griffin E. E., Fraser S. E., and Chan D. C. (2003) Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J. Cell. Biol. 160(2), 189–200.

    Article  PubMed  CAS  Google Scholar 

  • Cheney D. L., Uzunov D., Costa E., and Guidotti A. (1995) Gas chromatographic-mass fragmentographic quantitation of 3 alpha-hydroxy-5 alpha-pregnan-20-one (allopregnanolone) and its precursors in blood and brain of adrenal ectomized and castrated rats. J. Neurosci. 15(6), 4641–4650.

    PubMed  CAS  Google Scholar 

  • Chies R., Nobbio L., Edomi P., Schenone A., Schneider C., and Brancolini C. (2003) Alterations in the Arf6-regulated plasma membrane endosomal recycling pathway in cells overexpressing the tetraspan protein Gas3/PMP22. J. Cell Sci. 116(Pt. 6), 987–999.

    Article  PubMed  CAS  Google Scholar 

  • Compagnone N. A. and Mellon S. H. (2000) Neurosteroids: biosynthesis and function of these novel neuromodulators. Front. Neuroendocrinol. 21(1), 1–56.

    Article  PubMed  CAS  Google Scholar 

  • Corpechot C., Robel P., Axelson M., Sjovall J., and Baulieu E. E. (1981) Characterization and measurement of dehydroepiandrosterone sulfate in rat brain. Proc. Natl. Acad. Sci. U. S. A. 78(8), 4704–4707.

    Article  PubMed  CAS  Google Scholar 

  • Desarnaud F., Do Thi A. N., Brown A. M., Lemke G., Suter U., Baulieu E. E., and Schumacher M. (1998) Progesterone stimulates the activity of the promoters of peripheral myelin protein-22 and protein zero genes in Schwann cells. J. Neurochem. 71(4), 1765–1768.

    PubMed  CAS  Google Scholar 

  • de Waegh S. M., Lee V. M., and Brady S. T. (1992) Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 68(3), 451–463.

    Article  PubMed  Google Scholar 

  • Dubrovsky B. O. (2005) Steroids, neuroactive steroids and neurosteroids in psychopathology. Prog. Neuropsychopharmacol. Biol. Psychiatry 29(2), 169–192.

    Article  PubMed  CAS  Google Scholar 

  • D'Urso D., Ehrhardt P., and Muller H. W. (1999) Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. J. Neurosci. 19(9), 3396–3403.

    PubMed  Google Scholar 

  • Dyck P. C. P., Lebo R., and Carney J. A. (1993). Hereditary motor and sensory neuropathies, in Peripheral Neuropathy, Vol. 2 (Dyck P. and Thomas P. K., eds.). W. B. Saunders, Rochester: pp. 1094–1136.

    Google Scholar 

  • Edgar J. M., McLaughlin M., Barrie J. A., McCulloch M. C., Garbern J., and Griffiths I. R. (2004) Age-related axonal and myelin changes in the rumpshaker mutation of the Plp gene. Acta Neuropathol. (Berl.) 107(4), 331–335.

    Article  CAS  Google Scholar 

  • Edwards D. P., Almmann M., DeMarzo A., Zhang Y., Weigel N. L., and Beck C. A. (1995) Progesterone receptor and the mechanism of action of progesterone antagonists. J. Steroid Biochem. Mol. Biol. 53 (1–6), 449–458.

    Article  PubMed  CAS  Google Scholar 

  • Fortun J., Go J. C., Li J., Amici S. A., Dunn W. A., Jr., and Notterpek L. (2005) Alterations in degradative pathways and protein aggregation in a neuropathy modeal based on PMP22 overexpression. Neurobiol Dis.; epub ahead of print.

  • Fuhrmann U., Hess-Stumpp H., Cleve A., Neef G., Schwede W., Hoffmann J., et al. (2000) Synthesis and biological activity of a novel, highly potent progesterone receptor antagonist. J. Med. Chem. 43(26), 5010–5016.

    Article  PubMed  CAS  Google Scholar 

  • Garcia, C. A., Malamut R. E., England J. D., Parry G. S., Liu, P., and Lupski J. R. (1995) Clinical variability in two pairs of identical twins with the Charcot-Marie-Tooth disease type 1A duplication. 45(11), 2090–2093.

    CAS  Google Scholar 

  • Giambonini-Brugnoli G., Buchstaller J., Sommer L., Suter U., and Mantei N. (2005) Distinct disease mechanisms in peripheral neuropathies due to altered peripheral myelin protein 22 gene dosage or a Pmp22 point mutation. Neurobiol. Dis. 18(3), 656–668.

    Article  PubMed  CAS  Google Scholar 

  • Grandis M. and Shy M. E. (2005) Current therapy for Charcot-Marie-Tooth disease. Curr. Treatment Options Neurol. 7(1) 23–31.

    Article  Google Scholar 

  • Griffin L. D., Gong W., Verot L., and Mellon S. H. (2004) Niemann-Picktype C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone. Nat. Med. 10(7), 704–711.

    Article  PubMed  CAS  Google Scholar 

  • Guenard V., Montag D., Schachner M., and Martini R. (1996) Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non-myelinating, and denervated Schwann cells. Glia 18(1), 27–38.

    Article  PubMed  CAS  Google Scholar 

  • Harding A. E. and Thomas P. K. (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103(2), 259–280.

    Article  PubMed  CAS  Google Scholar 

  • Hasse B., Bosse F., Hanenberg H., and Muller H. W. (2004) Peripheral myelin protein 22 kDa and protein zero: domain specific trans-interactions. Mol. Cell. Neurosci. 27(4), 370–378.

    Article  PubMed  CAS  Google Scholar 

  • Higashi T., Takido N., and Shimada K. (2005) Studies on neurosteroids XVII. Analysis of stress-induced changes in neurosteroid levels in rat brains using liquid chromatography-electron capture atmospheric pressure chemical ionization-mass spectrometry. Steroids 70(1), 1–11.

    Article  PubMed  CAS  Google Scholar 

  • Huxley C., Passage E., Robertson A. M., Youl B., Huston S., Manson A., et al. (1998) Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Hum. Mol. Genet. 7(3), 449–458.

    Article  PubMed  CAS  Google Scholar 

  • Ionasescu V. V. (1995) Charcot-Marie-Tooth neuropathies: from clinical description to molecular genetics. Muscle Nerve 18(3), 267–275.

    Article  PubMed  CAS  Google Scholar 

  • Jang G. R. and Benet L. Z. (1997) Antiprogestin pharmacodynamics, pharmacokinetics, and metabolism: implications for their long-term use. J. Pharmacokinet. Biopharm. 25(6), 647–672.

    Article  PubMed  CAS  Google Scholar 

  • Johnston, J. A., Ward C. L., and Kopito R. R. (1998) Aggresomes: a cellular response to misfolded proteins. J. Cell Biol. 143(7), 1883–1898.

    Article  PubMed  CAS  Google Scholar 

  • Jung-Testas I., Schumacher M., Robel P., and Baulieu E. E. (1996) Demonstration of progesterone receptors in rat Schwann cells. J. Steroid Biochem. Mol. Biol. 58(1), 77–82.

    Article  PubMed  CAS  Google Scholar 

  • Kagawa T., Ikenaka K., Inoue Y., Kuriyama S., Tsujii T., Nakao J., et al. (1994) Gllal cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron 13(2), 427–442.

    Article  PubMed  CAS  Google Scholar 

  • Keswani S. C., Leitz G. J., and Hoke A. (2004) Erythropoietin is neuroprotective in models of HIV sensory neuropathy. Neurosci. Lett. 371(2–3), 102–105.

    Article  PubMed  CAS  Google Scholar 

  • Killian J. M., Tiwari P. S., Jacobson S., Jackson R. D., and Lupski J. R. (1996) Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 10(1), 74–78.

    Article  Google Scholar 

  • Koenig H. L., Schumacher M., Ferzaz B., Thi A. N., Ressouches A., Guennoun R., et al. (1995) Progesterone synthesis and myelin formation by Schwan cells. Science 268(5216), 1500–1503.

    Article  PubMed  CAS  Google Scholar 

  • Krajewski K. M., Lewis R. A., Fuerst D. R., Turansky C., Hinderer S. R., Garbern J., et al. (2000) Neurological dysfunction and axonal degeneration in Charcot-Marietooth disease type 1A. Brain 123 (Pt. 7) 1516–1527.

    Article  PubMed  Google Scholar 

  • Kuhlenbaumer G., Young P., Hunermund G., Ringelstein B., and Stogbauer F. (2002) Clinical features and molecular genetics of hereditary peripheral neuropathies. J. Neurol. 249(12), 1629–1650.

    Article  PubMed  CAS  Google Scholar 

  • Lambert J. J., Belelli D., Peden D. R., Vardy A. W., and Peters J. A. (2003) Neurosteroid modulation of GABAA receptors. Prog. Neurobiol. 71(1), 67–80.

    Article  PubMed  CAS  Google Scholar 

  • Lewis R. A., Li J., Fuerst D. R., Shy M. E., and Krajewski K. (2003) Motor unit number estimate of distal and proximal muscles in Charcot-Marie-Tooth disease. Muscle Nerve 28(2), 161–167.

    Article  PubMed  Google Scholar 

  • Lupski J. R., de Oca-Luna R. M., Slaugenhaupt S., Pentao L., Guzzetta V., Trask B. J., et al. (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66(2), 219–232.

    Article  PubMed  CAS  Google Scholar 

  • Maciejak P., Czlonkowska A. I., Bidzinski A., Walkowiak J., Szyndler J., Lehner M., et al. (2004) Pregnenolone sulfate potentiates the effects of NMDA on hippocampal alanine and dopamine. Pharmacol. Biochem. Behav. 78(4), 781–786.

    Article  PubMed  CAS  Google Scholar 

  • Magnaghi V., Cavarretta I., Galbiati M., Martini L., and Melcangi R. C. (2001) Neuroactive steroids and peripheral myelin proteins. Brain Res. Brain Res. Rev. 37(1–3), 360–371.

    Article  PubMed  CAS  Google Scholar 

  • Magyar J. P., Martini R., Ruelicke T., Aguzzi A., Adlkofer K., Dembic Z., et al. (1996) Impaired differentiation of Schwann cells intransgenic mice with increased PMP22 gene dosage. J. Neurosci. 16(17), 5351–5360.

    PubMed  CAS  Google Scholar 

  • Matsunami N., Smith B., Ballard L., et al., (1992) Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat. Genet. 1(3), 176–179.

    Article  PubMed  CAS  Google Scholar 

  • McKenna N. J. and O'Malley B. W. (2002) Combinatorial control gene expression by nuclear receptors and coregulators. Cell 108(4), 465–474.

    Article  PubMed  CAS  Google Scholar 

  • Melcangi R. C., Magnaghi V., Cavarretta I., Zucchi I., Bovolin P., D'Urso D., and Martini L. (1999) Progesterone derivatives are able to influence peripheral myelin protein 22 and P0 gene expression: possible mechanisms of action. J. Neurosci. Res. 56(4), 349–357.

    Article  PubMed  CAS  Google Scholar 

  • Mellon S. H. and Griffin L. D. (2002) Neurosteroids: biochemistry and clinical significance. Trends Endocrinol. Metab. 13(1), 35–43.

    Article  PubMed  CAS  Google Scholar 

  • Mostacciuolo M. L., Micaglio G., Fardin P., and Danieli G. A. (1991) Genetic epidemiology of hereditary motor sensory neuropathies (type I). Am. J. Med. Genet. 39(4), 479–481.

    Article  PubMed  CAS  Google Scholar 

  • Neef G., Beier S., Elger W., Henderson D., and Wiechert R. (1984) New steroids with antiprogestational and antiglucocorticoid activities. Steroids 44(4), 349–372.

    Article  PubMed  CAS  Google Scholar 

  • Nordeen S. K., Bona B. J., Beck C. A., Edwards D. P., Borror K. C., and DeFranco D. B. (1995) The two faces of a steroid antagonist: when an antagonist isn't. Steroids 60(1), 97–104.

    Article  PubMed  CAS  Google Scholar 

  • Notterpek L, Ryan M. C., Tobler A. R., and Shooter E. M. (1999) PMP22 accumulation in aggresomes: implications for CMT1A pathology. Neurobiol. Dis. 6(5), 450–460.

    Article  PubMed  CAS  Google Scholar 

  • Palau F., Lofgren A., De Jonghe P., Bort S., Nelis E., Sevilla T., et al. (1993) Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis. Hum. Mol. Genet. 2(12), 2031–2035.

    Article  PubMed  CAS  Google Scholar 

  • Passage E., Norreel J. C., Noack-Fraissignes P., Sanguedolce V., Pizant J., Thirion X., et al. (2004) Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat. Med. 10(4), 396–401.

    Article  PubMed  CAS  Google Scholar 

  • Patel P. I., Roa B. B., Welcher A. A., et al. (1992) The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1(3), 159–165.

    Article  PubMed  CAS  Google Scholar 

  • Podratz J. L., Rodriguez E., and Windebank A. J. (2001) Role of the extracellular matrix in myelination of peripheral nerve. Glia 35(1), 35–40.

    Article  PubMed  CAS  Google Scholar 

  • Podratz J. L., Rodriguez E. H., and Windebank A. J. (2004) Antioxidants are necessary for myelination of dorsal root ganglion neurons, in vitro. Glia 45(1), 54–58.

    Article  PubMed  Google Scholar 

  • Prince R. J. and Simmonds M. A. (1992) Steroid modulation of the strychnine-sensitive glycine receptor. Neuropharmacology 31(3), 201–205.

    Article  PubMed  CAS  Google Scholar 

  • Puls I., Jonnakuty C., LaMonte B. H., Holzbaur E. L., Tokito M., Mann E., et al. (2003) Mutant dynactin in motor neuron disease. Nat. Genet. 33(4), 455–456.

    Article  PubMed  CAS  Google Scholar 

  • Raeymaekers P., Timmerman V., Nelis E., De Jonghe P., Hoogendijk J. E., Baas F., et al., (1991). Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromusc. Disord. 1(2), 93–97.

    Article  PubMed  CAS  Google Scholar 

  • Readhead, C., Schneider A., Griffiths I., and Nave K. A. (1994) Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 12(3), 583–595.

    Article  PubMed  CAS  Google Scholar 

  • Robert F., Guennoun R., Desarnaud F., Do-Thi A., Benmessahel Y., Baulieu E. E., and Schumacher M. (2001) Synthesis of progesterone in Schwann cells: regulation by sensory neurons. Eur. J. Neurosci. 13(5), 916–924.

    Article  PubMed  CAS  Google Scholar 

  • Robertson J. F., Willsher P. C., Winterbottom L., Blamey R. W., and Thorpe S. (1999) Onapristone, a progesterone receptor antagonist, as first-line therapy in primary breast cancer. Eur. J. Cancer 35(2), 214–218.

    Article  PubMed  CAS  Google Scholar 

  • Rupprecht R. (2003) Neuroactive steroids: mechanisms of action and neuropsychopharmacological properties. Psychoneuroendocrinology 28(2), 139–168.

    Article  PubMed  CAS  Google Scholar 

  • Sahenk Z., Chen L., and Mendell J. R. (1999) Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann. Neurol. 45(1) 16–24.

    Article  PubMed  CAS  Google Scholar 

  • Sartorius C. A., Tung L., Takimoto G. S., and Horwitz K. B. (1993) Antagonist-occupied human progesterone receptors bound to DNA are functionally switched to transcriptional agonists by cAMP. J. Biol. Chem. 268(13), 9262–9266.

    PubMed  CAS  Google Scholar 

  • Schumacher M., Guennoun R., Mercier G., Desarnaud F., Lacor P., Benavides J., et al. (2001) Progesterone synthesis and myelinformation in peripheral nerves. Brain Res. Brain Res. Rev. 37(1–3), 343–359.

    Article  PubMed  CAS  Google Scholar 

  • Sereda M., Griffiths I., Puhlhofer A., Stewart H., Rossner M. J., Zimmerman F., et al. (1996) A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16(5), 1049–1060.

    Article  PubMed  CAS  Google Scholar 

  • Sereda M. W., Meyer zu Horste G., Suter U., Uzma N., and Nave K. A. (2003) Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat. Med. 9(12), 1533–1537.

    Article  PubMed  CAS  Google Scholar 

  • Shy M. E. (2004) Charcot-Marie-Tooth disease: an update. Curr. Opin. Neurol. 17(5), 579–585.

    Article  PubMed  CAS  Google Scholar 

  • Siren A. L., Fratelli M., Brines M., Goemans C., Casagrande S., Lewczuk P., et al. (2001) Erythropoietin prevents neuronal apoptosis after cerebral ischemia and metabolic stress. Proc. Natl. Acad. Sci. U. S. A. 98(7), 4044–4049.

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  • Soderpalm A. H., Lindsey S., Hauger R., and Wit de H. (2004) Administration of progesterone produces mild sedative-like effects in men and women. Psychoneuroendocrinology 29(3), 339–354.

    Article  PubMed  CAS  Google Scholar 

  • Stogbauer F., Young P., Kuhlenbaumer G., De Jonghe P., and Timmerman V. (2000) Hereditary recurrent focal neuropathies: clinical and molecular features. Neurology 54(3), 546–551.

    PubMed  CAS  Google Scholar 

  • Suter U. and Scherer S. S. (2003) Disease mechanisms in inherited neuropathies. Nat. Rev. Neurosci. 4(9), 714–726.

    Article  PubMed  CAS  Google Scholar 

  • Timmerman V., Nelis E., Van Hul W., et al. (1992) The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat. Genet. 1(3), 171–175.

    Article  PubMed  CAS  Google Scholar 

  • Tsai M. J. and O'Malley B. W. (1994) Molecular mechanisms of action of steroid/thyroid receptor superfamily members. Ann. Rev. Biochem. 63, 451–486.

    Article  PubMed  CAS  Google Scholar 

  • Valentijn L. J., Bolhuis P. A., Zorn I., et al. (1992) The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1(3), 166–170.

    Article  PubMed  CAS  Google Scholar 

  • Vallat J. M., Sindou P., Preux P. M., Tabaraud F., Milor A. M., Couratier P., et al. (1996) Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann. Neurol. 39(6), 813–817.

    Article  PubMed  CAS  Google Scholar 

  • Wetzel C. H., Hermann B., Behl C., Pestel E., Rammes G., Zieglgansberger W., et al. (1998) Functional antagonism of gonadal steroids at the 5-hydroxytryptamine-type 3 receptor. Mol. Endocrinol. 12(9), 1441–1451.

    Article  PubMed  CAS  Google Scholar 

  • Wu F. S., Chen S. C., and Tsai J. J. (1997) Competitive inhibition of the glycine-induced current by pregnenolone sulfate in cultured chick spinal cord neurons. Brain Res. 750(1–2), 318–320.

    Article  PubMed  CAS  Google Scholar 

  • Wu F. S., Gibbs T. T., and Farb D. H. (1991) Pregnonelone sulfate: a positiveallosteric modulator at the N-methyl-D-aspartate receptor. Mol. Pharmacol. 40(3), 333–336.

    PubMed  CAS  Google Scholar 

  • Wu R. C., Smith C. L., and O'Malley B. W. (2005) Transcriptional regulation by steroid receptor coactivator phosphorylation. Endocr. Rev. 26(3) 393–399.

    Article  PubMed  CAS  Google Scholar 

  • Yoshikawa H., Nishimura T., Nakatsuji Y., Fujimura H., Himoro M., Hayasaka K., et al. (1994) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann. Neurol. 35(4), 445–450.

    Article  PubMed  CAS  Google Scholar 

  • Zhao C., Takita J., Tanaka Y., Setou M., Nakagawa T., Takeda S., et al. (2001) Charcot-Marie-Tooth diseae type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105(5), 587–597.

    Article  PubMed  CAS  Google Scholar 

  • Zuchner S., Mersiyanova I. V., Muglia M., Bissar-Tadmouri N., Rochelle J., Dadali E. L., et al. (2004) Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36(5), 449–451.

    Article  PubMed  CAS  Google Scholar 

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  1. Max-Planck-Institute of Experimental Medicine, Göttingen, Germany

    Gerd Meyer zu Hörste, Thomas Prukop, Klaus-Armin Nave & Michael W. Sereda

  2. Center of Neurology, University of Göttingen, Germany

    Michael W. Sereda

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  1. Gerd Meyer zu Hörste
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Hörste, G.M.z., Prukop, T., Nave, KA. et al. Myelin disorders. J Mol Neurosci 28, 77–88 (2006). https://doi.org/10.1385/JMN:28:1:77

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