Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1 |
Choi, Yu-Ri
(Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine)
Jung, Sung-Chul (Department of Biochemistry, Ewha Womans University School of Medicine) Shin, Jinhee (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine) Yoo, So Young (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine) Lee, Ji-Su (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine) Joo, Jaesoon (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine) Lee, Jinho (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine) Hong, Young Bin (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine) Choi, Byung-Ok (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine) |
1 | Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-80. DOI |
2 | Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin Genet 1974;6:98-118. |
3 | Lupski JR, Garcia CA. Charcot-Marie-Tooth peripheral neuropathies and related disorders. In: Scriver CR, ed. The metabolic and molecular bases of inherited disease. Volume 4. 8th ed. New York: McGraw Hill, 2001:5759-88. |
4 | Patzko A, Shy ME. Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep 2011;11:78-88. DOI |
5 | Hanemann CO. Hereditary demyelinating neuropathies: from gene to disease. Neurogenetics 2001;3:53-7. DOI |
6 | Lupski JR, Garcia CA, Parry GJ, Patel PI. Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiological, and genetic aspects. In: Appel SH, ed. Current neurology. Chicago: Mosby-Yearbook, 1991:1-25. |
7 | Liu P, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, et al. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet 2014;94:462-9. DOI |
8 | Snipes GJ, Suter U, Welcher AA, Shooter EM. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol 1992;117:225-38. DOI |
9 | Spreyer P, Kuhn G, Hanemann CO, Gillen C, Schaal H, Kuhn R, et al. Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene. EMBO J 1991;10:3661-8. |
10 | Lemke G. Molecular biology of the major myelin genes. Trends Neurosci 1986;9:266-70. DOI |
11 | Sutcliffe JG. The genes for myelin. Trends Genet 1987;3:73-6. DOI |
12 | Tobler AR, Notterpek L, Naef R, Taylor V, Suter U, Shooter EM. Transport of Trembler-J mutant peripheral myelin protein 22 is blocked in the intermediate compartment and affects the transport of the wild-type protein by direct interaction. J Neurosci 1999;19:2027-36. DOI |
13 | Sancho S, Young P, Suter U. Regulation of Schwann cell proliferation and apoptosis in PMP22-deficient mice and mouse models of Charcot-Marie-Tooth disease type 1A. Brain 2001;124:2177-87. DOI |
14 | Myers JK, Mobley CK, Sanders CR. The peripheral neuropathy-linked Trembler and Trembler-J mutant forms of peripheral myelin protein 22 are folding-destabilized. Biochemistry 2008;47:10620-9. DOI |
15 | Sakakura M, Hadziselimovic A, Wang Z, Schey KL, Sanders CR. Structural basis for the Trembler-J phenotype of Charcot-Marie-Tooth disease. Structure 2011;19:1160-9. DOI |
16 | Pareek S, Notterpek L, Snipes GJ, Naef R, Sossin W, Laliberte J, et al. Neurons promote the translocation of peripheral myelin protein 22 into myelin. J Neurosci 1997;17:7754-62. DOI |
17 | Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am J Hum Genet 2005;77:841-50. DOI |
18 | Brockes JP, Fields KL, Raff MC. Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve. Brain Res 1979;165:105-18. DOI |
19 | Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 2004;10:396-401. DOI |
20 | Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, et al; CMT-TRIAAL; CMT-TRAUK groups. Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 2011;10:320-8. DOI |
21 | Pennuto M, Tinelli E, Malaguti M, Del Carro U, D'Antonio M, Ron D, et al. Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron 2008;57:393-405. DOI |
22 | Pleasure DE, Chance PF. Neurotrophin-3 therapy for Charcot-MarieTooth disease type 1A. Neurology 2005;65:662-3. DOI |
23 | Sahenk Z, Galloway G, Edwards C, Malik V, Kaspar BK, Eagle A, et al. TrkB and TrkC agonist antibodies improve function, electrophysiologic and pathologic features in Trembler J mice. Exp Neurol 2010;224:495-506. DOI |
24 | Jang SW, Lopez-Anido C, MacArthur R, Svaren J, Inglese J. Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem Biol 2012;7:1205-13. DOI |
25 | Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, et al. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 2007;81:438-53. DOI |
26 | Pahl HL. Signal transduction from the endoplasmic reticulum to the cell nucleus. Physiol Rev 1999;79:683-701. DOI |
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