Aberrant trafficking of a proteolipid protein in a mild Pelizaeus-Merzbacher disease

Neuroscience

Volumn 141, Issue 4, 2006, Pages 1861-1869

  Koizume, S ^a,b,c   Takizawa, S ^a,b   Fujita, K ^a   Aida, N ^a   Yamashita, S ^a   Miyagi, Y ^c   Osaka, H ^a,b  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c KANAGAWA CANCER CENTER   (Japan)

Author keywords

intracellular trafficking; Pelizaeus Merzbacher disease; proteolipid protein; unfolded protein response

Indexed keywords

ENHANCED GREEN FLUORESCENT PROTEIN; LEUCINE; MUTANT PROTEIN; PEPTIDE; PROTEOLIPID PROTEIN; TRYPTOPHAN;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CELL MEMBRANE; CELL NUCLEUS MEMBRANE; CELL STRAIN COS7; CONTROLLED STUDY; EXON; GENE MUTATION; HUMAN; INTRACELLULAR TRANSPORT; MALE; NONHUMAN; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FOLDING; QUALITY CONTROL;

ANIMALS; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; CLONING, MOLECULAR; COS CELLS; EXONS; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION; GREEN FLUORESCENT PROTEINS; HUMANS; LEUCINE; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MUTAGENESIS; MUTATION; MYELIN PROTEOLIPID PROTEIN; PELIZAEUS-MERZBACHER DISEASE; PROTEIN TRANSPORT; RECEPTORS, PEPTIDE; SUBCELLULAR FRACTIONS; TIME FACTORS; TRANSFECTION; TRYPTOPHAN;

EID: 33747442796     PISSN: 03064522     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neuroscience.2006.05.067     Document Type: Article

References (30)

1. Boespflug-Tanguy O., Mimault C., Melki J., Cavagna A., Giraud G., Pham Dinh D., Dastugue B., Dautigny A., and PMD Clinical Group. Genetic homogeneity of Pelizaeus-Merzbacher disease. tight linkage to the proteolipoprotein locus in 16 affected families. Am J Hum Genet 55 (1994) 461-467
2. Boucher S.E., Cypher M.A., Carlock L.R., and Skoff R.P. Proteolipid protein gene modulates viability and phenotype of neurons. J Neurosci 22 (2002) 1772-1783
3. Cerghet M., Bessert D.A., Nave K.A., and Skoff R.P. Differential expression of apoptotic markers in jimpy and in Plp overexpressors. evidence for different apoptotic pathways. J Neurocytol 30 (2001) 841-855
4. Gentzsch M., Chang X.B., Cui L., Wu Y., Ozols V.V., Choudhury A., Pagano R.E., and Riordan J.R. Endocytic trafficking routes of wild type and DeltaF508 cystic fibrosis transmembrane conductance regulator. Mol Biol Cell 15 (2004) 2684-2696
5. Ghandour M.S., Feutz A.C., Jalabi W., Taleb O., Bessert D., Cypher M., Carlock L., and Skoff R.P. Trafficking of PLP/DM20 and cAMP signaling in immortalized jimpy oligodendrocytes. Glia 40 (2002) 300-311
6. Gonzalez-Alegre P., and Paulson H.L. Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci 24 (2004) 2593-2601
7. Goodchild R.E., and Dauer W.T. Mislocalization to the nuclear envelope. an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci U S A 101 (2004) 847-852
8. Gow A. The COS-7 cell in vitro paradigm to study myelin proteolipid protein 1 gene mutations. Methods Mol Biol 217 (2003) 263-275
9. Gow A., Friedrich Jr. V.L., and Lazzarini R.A. Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein. J Neurosci Res 37 (1994) 563-573
10. Gow A., Friedrich Jr. V.L., and Lazzarini R.A. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport. J Neurosci Res 37 (1994) 574-583
11. Gow A., and Lazzarini R.A. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat Genet 13 (1996) 422-428
12. Gow A., and Sharma R. The unfolded protein response in protein aggregating diseases. Neuromolecular Med 4 (2003) 73-94
13. Gow A., Southwood C.M., and Lazzarini R.A. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease. J Cell Biol 140 (1998) 925-934
14. Griffiths I., Klugmann M., Anderson T., Thomson C., Vouyiouklis D., and Nave K.A. Current concepts of PLP and its role in the nervous system. Microsc Res Tech 41 (1998) 344-358
15. Hudson L.D., Puckett C., Berndt J., Chan J., and Gencic S. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Proc Natl Acad Sci U S A 86 (1989) 8128-8131
16. Inoue K. PLP1-related inherited dysmyelinating disorders. Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6 (2005) 1-16
17. Inoue K., Osaka H., Thurston V.C., Clarke J.T., Yoneyama A., Rosenbarker L., Bird T.D., Hodes M.E., Shaffer L.G., and Lupski J.R. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am J Hum Genet 71 (2002) 838-853
18. Kagawa T., Ikenaka K., Inoue Y., Kuriyama S., Tsujii T., Nakao J., Nakajima K., Aruga J., Okano H., and Mikoshiba K. Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene. Neuron 13 (1994) 427-442
19. Kaufman R.J. Orchestrating the unfolded protein response in health and disease. J Clin Invest 110 (2002) 1389-1398
20. Naismith T.V., Heuser J.E., Breakefield X.O., and Hanson P.I. TorsinA in the nuclear envelope. Proc Natl Acad Sci U S A 101 (2004) 7612-7617
21. Osaka H., Kawanishi C., Inoue K., Onishi H., Kobayashi T., Sugiyama N., Kosaka K., Nezu A., Fujii K., Sugita K., Kodama K., Murayama K., Murayama S., Kanazawa I., and Kimura S. Pelizaeus-Merzbacher disease. three novel mutations and implication for locus heterogeneity. Ann Neurol 45 (1999) 59-64
22. Raskind W.H., Williams C.A., Hudson L.D., and Bird T.D. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 49 (1991) 1355-1360
23. Readhead C., Schneider A., Griffiths I., and Nave K.A. Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage. Neuron 12 (1994) 583-595
24. Roussel G., Neskovic N.M., Trifilieff E., Artault J.C., and Nussbaum J.L. Arrest of proteolipid transport through the Golgi apparatus in Jimpy brain. J Neurocytol 16 (1987) 195-204
25. Schneider A., Montague P., Griffiths I., Fanarraga M., Kennedy P., Brophy P., and Nave K.A. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Nature 358 (1992) 758-761
26. Sharma M., Pampinella F., Nemes C., Benharouga M., So J., Du K., Bache K.G., Papsin B., Zerangue N., Stenmark H., and Lukacs G.L. Misfolding diverts CFTR from recycling to degradation. quality control at early endosomes. J Cell Biol 164 (2004) 923-933
27. Simons M., Kramer E.M., Macchi P., Rathke-Hartlieb S., Trotter J., Nave K.A., and Schulz J.B. Overexpression of the myelin proteolipid protein leads to accumulation of cholesterol and proteolipid protein in endosomes/lysosomes. implications for Pelizaeus-Merzbacher disease. J Cell Biol 157 (2002) 327-336
28. Sistermans E.A., de Wijs I.J., de Coo R.F., Smit L.M., Menko F.H., and van Oost B.A. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family. Hum Genet 97 (1996) 337-339
29. Southwood C.M., Garbern J., Jiang W., and Gow A. The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease. Neuron 36 (2002) 585-596
30. Thomson C.E., Montague P., Jung M., Nave K.A., and Griffiths I.R. Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins. Glia 20 (1997) 322-332