Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease (original) (raw)

• Dyck, P.J., Oviatt, K.F. & Lambert, E.H. Intensive evaluation of referred unclassified neuropathies yields improved diagnosis. Ann. Neurol. 10, 222–226 (1981).
  Article CAS PubMed Google Scholar
• Ouvrier, R.A. & Nicholson, G.A. Advances in the genetics of hereditary hypertrophic neuropathies in childhood. Brain Dev. 17, 31–38 (1995).
  Article PubMed Google Scholar
• Skre, H. Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin. Genet. 6, 98–118 (1974).
  Article CAS PubMed Google Scholar
• Boerkoel, C.F. et al. CMT disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51, 190–201 (2002).
  Article CAS PubMed Google Scholar
• Nelis, E. et al. (The European CMT Consortium). Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and HNNP: a European collaborative study. Eur. J. Hum. Genet. 4, 25–33 (1997).
  Article Google Scholar
• Lupski, J.R. et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66, 219–232 (1991).
  Article CAS PubMed Google Scholar
• Raeymaekers, P. et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). Neuromuscul. Disord. 1, 93–97 (1991).
  Article CAS PubMed Google Scholar
• Matsunami, N. et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1, 176–179 (1992).
  Article CAS PubMed Google Scholar
• Patel, P.I. et al. The gene for peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1, 159–165 (1992).
  Article CAS PubMed Google Scholar
• Timmerman, V. et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat. Genet. 1, 171–175 (1992).
  Article CAS PubMed Google Scholar
• Valentijn, L.J. et al. The peripheral myelin protein gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nat. Genet. 1, 166–170 (1992).
  Article CAS PubMed Google Scholar
• Roa, B.B. et al. Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP 22 gene. N. Engl. J. Med. 329, 96–101 (1993).
  Article CAS PubMed Google Scholar
• Valentijn, L.J. et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat. Genet. 2, 288–291 (1992).
  Article CAS PubMed Google Scholar
• Fenton C.F., Schlefman, B.S. & McGlamry, E.D. Surgical considerations in the presence of Charcot-Marie-Tooth disease. J. Am. Podiatr. Assoc. 74, 490–498 (1984).
  Article Google Scholar
• Gould, N. Surgery in advanced Charcot-Marie-Tooth disease. Foot Ankle 4, 267–273 (1984).
  Article CAS PubMed Google Scholar
• Njegovan, M.E., Leonard, E.I. & Joseph, F.B. Rehabilitation medicine approach to Charcot-Marie-Tooth disease. Clin. Podiatr. Med. Surg. 14, 99–116 (1997).
  CAS PubMed Google Scholar
• Huxley, C. et al. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum. Mol. Genet. 5, 563–569 (1996).
  Article CAS PubMed 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 PubMed Google Scholar
• Carey, D.J. & Todd, M.S. Schwann cell myelination in a chemically defined medium: demonstration of a requirement for additives that promote Schwann cell extracellular matrix formation. Brain Res. 429, 95–102 (1987).
  Article CAS PubMed Google Scholar
• Eldridge, C.F. et al. Differentiation of axon-related Schwann cells in vitro. I. Ascorbic acid regulates basal lamina assembly and myelin formation. J. Cell. Biol. 105, 1023–1034 (1987).
  Article CAS PubMed Google Scholar
• Plant, G.W. et al. Purified adult ensheathing glia fail to myelinate axons under culture conditions that enable Schwann cells to form myelin. J. Neurosci. 22, 6083–6091 (2002).
  Article CAS PubMed PubMed Central Google Scholar
• Hood, J. Femoral neuropathy in scurvy. N. Engl. J. Med. 281, 1292–1293 (1969).
  Article CAS PubMed Google Scholar
• Norreel, J.C. et al. Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model. Eur. J. Neurosci. 13, 1625–1634 (2001).
  Article CAS PubMed Google Scholar
• Chapillon, P. et al. Early development of synchronized walking on the rotarod in rats. Effects of training and handling. Behav. Brain Res. 93, 77–81 (1998).
  Article CAS PubMed Google Scholar
• Garcia, C.A. A clinical review of Charcot-Marie-Tooth disease. Ann. NY Acad. Sci. 883, 69–76 (1999).
  Article CAS PubMed Google Scholar
• Carter, R.J. et al. Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation. J. Neurosci. 19, 3248–3257 (1999).
  Article CAS PubMed PubMed Central Google Scholar
• Sancho, S. et al. Distal axonopathy in peripheral nerves of PMP22 mutant mice. Brain 122, 1563–1577 (1999).
  Article PubMed Google Scholar
• Coschigano, K.T. et al. Deletions, but not antagonism, of the mouse growth hormone receptor results in severely decreased body weights, insulin, and insulin-like growth factor I levels and increased life span. Endocrinology 144, 3799–3804 (2003).
  Article CAS PubMed Google Scholar
• Sabéran-Djoneidi, D. et al. Molecular dissection of the Schwann cell specific promoter of the PMP22 gene. Gene 248, 223–231 (2000).
  Article PubMed Google Scholar
• Agus, D.B. et al. Vitamin C crosses the blood-brain barrier in the oxidized form through the glucose transporters. J. Clin. Invest. 100, 2842–2848 (1997).
  Article CAS PubMed PubMed Central Google Scholar
• Nishikawa, Y. et al. Vitamin C metabolomic mapping in experimental diabetes with 6-DFA and high resolution 19F magnetic resonance spectroscopy. Metabolism 6, 760–770 (2003).
  Article Google Scholar
• Lopez-Lluch, G. et al. Redox regulation of cAMP levels by ascorbate in 1,25-dihydroxy-vitamin D3-induced differentiation of HL-60 cells. Biochem. J. 331, 21–27 (1998).
  Article CAS PubMed PubMed Central Google Scholar
• Yang, Z., Copolov, D.L. & Lim, A.T. Ascorbic acid augments the adenylate cyclase-cAMP system-mediated POMC mRNA expression and β-endorphin secretion from hypothalamic neurons in culture. Brain Res. 706, 243–248 (1996).
  Article CAS PubMed Google Scholar
• Arrigoni, O. & De Tullio, M.C. Ascorbic acid: much more than just an antioxidant. Biochim. Biophys. Acta 1569, 1–9 (2002).
  Article CAS PubMed Google Scholar
• Rodriguez-Melendez, R. Importance of water-soluble vitamins as regulatory factors of genetic expression. Rev. Invest. Clin. 54, 77–83 (2002).
  CAS PubMed Google Scholar