Protein misfolding and clearance in demyelinating peripheral neuropathies

References

• Patzkó A, Shy ME. Update on Charcot-Marie-Tooth disease. Curr Neurol Neurosci Rep 2011; 11:78 - 88; http://dx.doi.org/10.1007/s11910-010-0158-7; PMID: 21080241
   PubMed Web of Science ®Google Scholar
• Reilly MM, Murphy SM, Laura M. Charcot-Marie-Tooth disease. J Peripher Nerv Syst 2011; 16:1 - 14; http://dx.doi.org/10.1111/j.1529-8027.2011.00324.x; PMID: 21504497
   PubMed Web of Science ®Google Scholar
• Lee SM, Olzmann JA, Chin LS, Li L. Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. J Cell Sci 2011; 124:3319 - 31; http://dx.doi.org/10.1242/jcs.087114; PMID: 21896645
   PubMed Web of Science ®Google Scholar
• Fontanini A, Chies R, Snapp EL, Ferrarini M, Fabrizi GM, Brancolini C. Glycan-independent role of calnexin in the intracellular retention of Charcot-Marie-tooth 1A Gas3/PMP22 mutants. J Biol Chem 2005; 280:2378 - 87; http://dx.doi.org/10.1074/jbc.M405104200; PMID: 15537650
   PubMed Web of Science ®Google Scholar
• D'Urso D, Brophy PJ, Staugaitis SM, Gillespie CS, Frey AB, Stempak JG, et al. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 1990; 4:449 - 60; http://dx.doi.org/10.1016/0896-6273(90)90057-M; PMID: 1690568
   PubMed Web of Science ®Google Scholar
• Fortun J, Go JC, Li J, Amici SA, Dunn WA Jr., Notterpek L. Alterations in degradative pathways and protein aggregation in a neuropathy model based on PMP22 overexpression. Neurobiol Dis 2006; 22:153 - 64; http://dx.doi.org/10.1016/j.nbd.2005.10.010; PMID: 16326107
   PubMed Web of Science ®Google Scholar
• Fortun J, Li J, Go J, Fenstermaker A, Fletcher BS, Notterpek L. Impaired proteasome activity and accumulation of ubiquitinated substrates in a hereditary neuropathy model. J Neurochem 2005; 92:1531 - 41; http://dx.doi.org/10.1111/j.1471-4159.2004.02987.x; PMID: 15748170
   PubMed Web of Science ®Google Scholar
• 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; http://dx.doi.org/10.1021/bi801157p; PMID: 18795802
   PubMed Web of Science ®Google Scholar
• Shames I, Fraser A, Colby J, Orfali W, Snipes GJ. Phenotypic differences between peripheral myelin protein-22 (PMP22) and myelin protein zero (P0) mutations associated with Charcot-Marie-Tooth-related diseases. J Neuropathol Exp Neurol 2003; 62:751 - 64; PMID: 12901701
   PubMed Web of Science ®Google Scholar
• Mandich P, Fossa P, Capponi S, Geroldi A, Acquaviva M, Gulli R, et al. Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies. Eur J Hum Genet 2009; 17:1129 - 34; http://dx.doi.org/10.1038/ejhg.2009.37; PMID: 19293842
   PubMed Web of Science ®Google Scholar
• Selkoe DJ. Cell biology of protein misfolding: the examples of Alzheimer's and Parkinson's diseases. Nat Cell Biol 2004; 6:1054 - 61; http://dx.doi.org/10.1038/ncb1104-1054; PMID: 15516999
   PubMed Web of Science ®Google Scholar
• Ovádi J, Orosz F, Hollan S. Functional aspects of cellular microcompartmentation in the development of neurodegeneration: mutation induced aberrant protein-protein associations. Mol Cell Biochem 2004; 256-257:83 - 93; http://dx.doi.org/10.1023/B:MCBI.0000009860.86969.72; PMID: 14977172
   PubMed Web of Science ®Google Scholar
• 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; PMID: 9315897
   PubMed Web of Science ®Google Scholar
• Ryan MC, Shooter EM, Notterpek L. Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations. Neurobiol Dis 2002; 10:109 - 18; http://dx.doi.org/10.1006/nbdi.2002.0500; PMID: 12127149
   PubMed Web of Science ®Google Scholar
• Olzmann JA, Li L, Chin LS. Aggresome formation and neurodegenerative diseases: therapeutic implications. Curr Med Chem 2008; 15:47 - 60; http://dx.doi.org/10.2174/092986708783330692; PMID: 18220762
   PubMed Web of Science ®Google Scholar
• Fortun J, Dunn WA Jr., Joy S, Li J, Notterpek L. Emerging role for autophagy in the removal of aggresomes in Schwann cells. J Neurosci 2003; 23:10672 - 80; PMID: 14627652
   PubMed Web of Science ®Google Scholar
• Olzmann JA, Li L, Chudaev MV, Chen J, Perez FA, Palmiter RD, et al. Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6. J Cell Biol 2007; 178:1025 - 38; http://dx.doi.org/10.1083/jcb.200611128; PMID: 17846173
   PubMed Web of Science ®Google Scholar
• Fortun J, Verrier JD, Go JC, Madorsky I, Dunn WA, Notterpek L. The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones. Neurobiol Dis 2007; 25:252 - 65; http://dx.doi.org/10.1016/j.nbd.2006.09.018; PMID: 17174099
   PubMed Web of Science ®Google Scholar
• Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M. Regulation of myelin-specific gene expression. Relevance to CMT1. Ann N Y Acad Sci 1999; 883:91 - 108; http://dx.doi.org/10.1111/j.1749-6632.1999.tb08572.x; PMID: 10586235
   PubMed Web of Science ®Google Scholar
• Lee YC, Lin KP, Chang MH, Liao YC, Tsai CP, Liao KK, et al. Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes. J Neurol 2010; 257:1661 - 8; http://dx.doi.org/10.1007/s00415-010-5590-8; PMID: 20461396
   PubMed Web of Science ®Google Scholar
• Hamilton AL, Eder JP, Pavlick AC, Clark JW, Liebes L, Garcia-Carbonero R, et al. Proteasome inhibition with bortezomib (PS-341): a phase I study with pharmacodynamic end points using a day 1 and day 4 schedule in a 14-day cycle. J Clin Oncol 2005; 23:6107 - 16; http://dx.doi.org/10.1200/JCO.2005.01.136; PMID: 16135477
   PubMed Web of Science ®Google Scholar
• Filosto M, Rossi G, Pelizzari AM, Buzio S, Tentorio M, Broglio L, et al. A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement. J Neurol Sci 2007; 263:40 - 3; http://dx.doi.org/10.1016/j.jns.2007.05.023; PMID: 17612569
   PubMed Web of Science ®Google Scholar
• Watanabe T, Nagase K, Chosa M, Tobinai K. Schwann cell autophagy induced by SAHA, 17-AAG, or clonazepam can reduce bortezomib-induced peripheral neuropathy. Br J Cancer 2010; 103:1580 - 7; http://dx.doi.org/10.1038/sj.bjc.6605954; PMID: 20959823
   PubMed Web of Science ®Google Scholar
• Weimer LH, Podwall D. Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease. J Neurol Sci 2006; 242:47 - 54; http://dx.doi.org/10.1016/j.jns.2005.11.014; PMID: 16386273
   PubMed Web of Science ®Google Scholar
• Lockman LA, Kennedy WR, White JG. The Chediak-Higashi syndrome: electrophysiological and electron microscopic observations on the peripheral neuropathy. J Pediatr 1967; 70:942 - 51; http://dx.doi.org/10.1016/S0022-3476(67)80267-1; PMID: 4290695
   PubMed Web of Science ®Google Scholar
• Spowart J, Lum JJ. Opening a new DOR to autophagy. EMBO Rep 2010; 11:4 - 5; http://dx.doi.org/10.1038/embor.2009.265; PMID: 20033084
   PubMed Web of Science ®Google Scholar
• Rigacci S, Guidotti V, Bucciantini M, Parri M, Nediani C, Cerbai E, et al. Oleuropein aglycon prevents cytotoxic amyloid aggregation of human amylin. J Nutr Biochem 2010; 21:726 - 35; http://dx.doi.org/10.1016/j.jnutbio.2009.04.010; PMID: 19616928
   PubMed Web of Science ®Google Scholar
• Lee BH, Lee MJ, Park S, Oh DC, Elsasser S, Chen PC, et al. Enhancement of proteasome activity by a small-molecule inhibitor of USP14. Nature 2010; 467:179 - 84; http://dx.doi.org/10.1038/nature09299; PMID: 20829789
   PubMed Web of Science ®Google Scholar
• Bodner RA, Outeiro TF, Altmann S, Maxwell MM, Cho SH, Hyman BT, et al. Pharmacological promotion of inclusion formation: a therapeutic approach for Huntington's and Parkinson's diseases. Proc Natl Acad Sci USA 2006; 103:4246 - 51; http://dx.doi.org/10.1073/pnas.0511256103; PMID: 16537516
   PubMed Web of Science ®Google Scholar
• Rangaraju S, Verrier JD, Madorsky I, Nicks J, Dunn WA Jr., Notterpek L. Rapamycin activates autophagy and improves myelination in explant cultures from neuropathic mice. J Neurosci 2010; 30:11388 - 97; http://dx.doi.org/10.1523/JNEUROSCI.1356-10.2010; PMID: 20739560
   PubMed Web of Science ®Google Scholar