Soluble neuregulin-1 modulates disease pathogenesis in rodent models of Charcot-Marie-Tooth disease 1A (original) (raw)

• Sereda, M. et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16, 1049–1060 (1996).
  Article CAS Google Scholar
• Lupski, J.R. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219–232 (1991).
  Article CAS Google Scholar
• Raeymaekers, P. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromuscul. Disord. 1, 93–97 (1991).
  Article CAS Google Scholar
• Pareyson, D. & Marchesi, C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol. 8, 654–667 (2009).
  Article CAS Google Scholar
• Fledrich, R., Stassart, R.M. & Sereda, M.W. Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease. Br. Med. Bull. 102, 89–113 (2012).
  Article CAS Google Scholar
• Patzkó, A. & Shy, M.E. Update on Charcot-Marie-Tooth disease. Curr. Neurol. Neurosci. Rep. 11, 78–88 (2011).
  Article Google Scholar
• Berciano, J., García, A., Calleja, J. & Combarros, O. Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with Charcot-Marie-Tooth disease 1A duplication. Neuromuscul. Disord. 10, 419–424 (2000).
  Article CAS Google Scholar
• Harding, A.E. & Thomas, P.K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103, 259–280 (1980).
  Article CAS Google Scholar
• Thomas, P.K. et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120, 465–478 (1997).
  Article Google Scholar
• Burns, J., Ryan, M.M. & Ouvrier, R.A. Evolution of foot and ankle manifestations in children with CMT1A. Muscle Nerve 39, 158–166 (2009).
  Article Google Scholar
• Yiu, E.M., Burns, J., Ryan, M.M. & Ouvrier, R.A. Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. J. Peripher. Nerv. Syst. 13, 236–241 (2008).
  Article Google Scholar
• Fledrich, R. et al. A rat model of Charcot-Marie-Tooth disease 1A recapitulates disease variability and supplies biomarkers of axonal loss in patients. Brain 135, 72–87 (2012).
  Article Google Scholar
• Sereda, M.W., Meyer zu Hörste, G., Suter, U., Uzma, N. & Nave, K.-A. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT–1A). Nat. Med. 9, 1533–1537 (2003).
  Article CAS Google Scholar
• Gabreëls-Festen, A.A. et al. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol. 90, 645–649 (1995).
  Article Google Scholar
• Kobsar, I., Hasenpusch–Theil, K., Wessig, C., Müller, H.W. & Martini, R. Evidence for macrophage-mediated myelin disruption in an animal model for Charcot-Marie-Tooth neuropathy type 1A. J. Neurosci. Res. 81, 857–864 (2005).
  Article CAS Google Scholar
• Jessen, K.R. & Mirsky, R. The origin and development of glial cells in peripheral nerves. Nat. Rev. Neurosci. 6, 671–682 (2005).
  Article CAS Google Scholar
• Hanemann, C.O., Gabreëls–Festen, A.A.W.M., Stoll, G. & Müller, H.W. Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs. Acta Neuropathol. 94, 310–315 (1997).
  Article CAS Google Scholar
• Hanemann, C.O., Gabreëls–Fasten, A.A.W.M., Müller, H.W. & Stoll, G. Low affinity NGF receptor expression in CMT1A nerve biopsies of different disease stages. Brain 119, 1461–1469 (1996).
  Article Google Scholar
• Adlkofer, K. et al. Hypermyelination and demyelianting peripheral neuropathy in _Pmp22_-deficient mice. Nat. Genet. 11, 274–280 (1995).
  Article CAS Google Scholar
• Martini, R., Klein, D. & Groh, J. Similarities between inherited demyelinating neuropathies and Wallerian degeneration: an old repair program may cause myelin and axon perturbation under nonlesion conditions. Am. J. Pathol. 183, 655–660 (2013).
  Article CAS Google Scholar
• Fischer, S., Weishaupt, A., Troppmair, J. & Martini, R. Increase of MCP-1 (CCL2) in myelin mutant Schwann cells is mediated by Mek-Erk signaling pathway. Glia 56, 836–843 (2008).
  Article Google Scholar
• Kohl, B., Fischer, S., Groh, J., Wessig, C. & Martini, R. MCP-1/CCL2 modifies axon properties in a PMP22-overexpressing mouse model for Charcot-Marie-Tooth 1A neuropathy. Am. J. Pathol. 176, 1390–1399 (2010).
  Article CAS Google Scholar
• Napoli, I. et al. A central role for the Erk-signaling pathway in controlling Schwann cell plasticity and peripheral nerve regeneration in vivo. Neuron 73, 729–742 (2012).
  Article CAS Google Scholar
• Mendoza, M.C., Emrah Er, E. & Blenis, J. The Ras-Erk and PI3K-mTOR pathways: cross-talk and compensation. Trends Biochem. Sci. 36, 320–328 (2011).
  Article CAS Google Scholar
• Nobbio, L. et al. Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease. Neurobiol. Dis. 16, 263–273 (2004).
  Article CAS Google Scholar
• Syed, N. et al. Soluble neuregulin-1 has bifunctional, concentration-dependent effects on Schwann cell myelination. J. Neurosci. 30, 6122–6131 (2010).
  Article CAS Google Scholar
• Taveggia, C. et al. Neuregulin-1 type III determines the ensheathment fate of axons. Neuron 47, 681–694 (2005).
  Article CAS Google Scholar
• Birchmeier, C. & Nave, K.-A. Neuregulin-1, a key axonal signal that drives Schwann cell growth and differentiation. Glia 56, 1491–1497 (2008).
  Article Google Scholar
• Michailov, G.V. et al. Axonal neuregulin-1 regulates myelin sheath thickness. Science 304, 700–703 (2004).
  Article CAS Google Scholar
• Falls, D.L. Neuregulins and the neuromuscular system: 10 years of answers and questions. J. Neurocytol. 32, 619–647 (2003).
  Article CAS Google Scholar
• Stassart, R.M. et al. A role for Schwann cell–derived neuregulin-1 in remyelination. Nat. Neurosci. 16, 48–54 (2013).
  Article CAS Google Scholar
• Mendes–Ferreira, P., De Keulenaer, G.W., Leite–Moreira, A.F. & Brás–Silva, C. Therapeutic potential of neuregulin-1 in cardiovascular disease. Drug Discov. Today 18, 836–842 (2013).
  Article Google Scholar
• Huxley, C. et al. 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, 449–458 (1998).
  Article CAS Google Scholar
• Bersell, K., Arab, S., Haring, B. & Kühn, B. Neuregulin1/ErbB4 signaling induces cardiomyocyte proliferation and repair of heart injury. Cell 138, 257–270 (2009).
  Article CAS Google Scholar
• Kato, T. et al. Transient exposure of neonatal mice to neuregulin-1 results in hyperdopaminergic states in adulthood: implication in neurodevelopmental hypothesis for schizophrenia. Mol. Psychiatry 16, 307–320 (2011).
  Article CAS Google Scholar
• Haney, C. et al. Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. J. Neuropathol. Exp. Neurol. 55, 290–299 (1996).
  Article CAS Google Scholar
• Koike, H. et al. Nonmyelinating Schwann cell involvement with well-preserved unmyelinated axons in Charcot-Marie-Tooth disease type 1A. J. Neuropathol. Exp. Neurol. 66, 1027–1036 (2007).
  Article CAS Google Scholar
• Arthur–Farraj, P.J. et al. c-Jun reprograms Schwann cells of injured nerves to generate a repair cell essential for regeneration. Neuron 75, 633–647 (2012).
  Article Google Scholar
• D'Antonio, M. et al. Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. J. Exp. Med. 210, 821–838 (2013).
  Article CAS Google Scholar
• Patzkó, A. et al. Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain 135, 3551–3566 (2012).
  Article Google Scholar
• Meyer zu Hörste, G. et al. Antiprogesterone therapy uncouples axonal loss from demyelination in a transgenic rat model of CMT1A neuropathy. Ann. Neurol. 61, 61–72 (2007).
  Article Google Scholar
• Brockes, J.P. et al. Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve. Brain Res. 165, 105–118 (1979).
  Article CAS Google Scholar
• Krishnan, A.V., Lin, C.S.-Y., Park, S.B. & Kiernan, M.C. Axonal ion channels from bench to bedside: a translational neuroscience perspective. Prog. Neurobiol. 89, 288–313 (2009).
  Article CAS Google Scholar
• Nodera, H. et al. Nerve excitability properties in Charcot-Marie-Tooth disease type 1A. Brain 127, 203–211 (2004).
  Article Google Scholar
• Boërio, D., Greensmith, L. & Bostock, H. Excitability properties of motor axons in the maturing mouse. J. Peripher. Nerv. Syst. 14, 45–53 (2009).
  Article Google Scholar