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References
- 1. Adlkofer K , Martini R , Aguzzi A , Zielasek J , Toyka KV , Suter U ( 1995. ) Hypermyelination and demyelinating peripheral neuropathy in PMP‐22‐deficient Mice . Nature Genet 11 : 274 – 280 . [DOI] [PubMed] [Google Scholar]
- 2. Adlkofer K , Frei R , Neuberg DH , Zielasek J , Toyka KV , Suter U ( 1997. ) Heterozygous peripheral myelin protein 22‐deficient mice are affected by a progressive demyelinating tomaculous neuropathy . J Neurosci 17 : 4662 – 4671 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 3. Adlkofer K , Naef R , Suter U ( 1997. ) Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain‐of‐function allele . J Neurosci Res 49 : 671 – 680 . [DOI] [PubMed] [Google Scholar]
- 4. Alroy I , Yarden Y ( 1997. ) The ErbB signaling network in embryogenesis and oncogenesis: signal diversification through combinatorial ligand‐receptor interactions . FEBS Lett 410 : 83 – 86 . [DOI] [PubMed] [Google Scholar]
- 5. Anderson TJ , Schneider A , Barrie JA , Klugmann M , McCulloch MC , Kirkham D , Kyriakides E , Nave K‐A , Griffiths IR ( 1998. ) Increased dosage of the proteolipid protein gene causes late‐onset neurodegeneration . J. Comp. Neurol. 394 : 506 – 519 . [DOI] [PubMed] [Google Scholar]
- 6. Anzini P , Neuberg DH , Schachner M , Nelles E , Willecke K , Zielasek J , Toyka KV , Suter U , Martini R ( 1997. ) Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32 . J Neurosci 17 : 4545 – 4551 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 7. Aubourg P ( 1996. ) X‐linked adrenoleukodystrophy . In HW Moser ( Ed ): Handbook of Clinical Neurology Volume 22: Neurodystrophies and Neurolipidoses . Amsterdam : Elsevier; , pp 447 – 483 . [Google Scholar]
- 8. Bartsch S , Montag D , Schachner M , Bartsch U ( 1997. ) Increased number of unmyelinated axons in optic nerves of adult mice deficient in the myelin‐associated glycoprotein (MAG) . Brain Res 762 : 231 – 234 . [DOI] [PubMed] [Google Scholar]
- 9. Beck KD , Powell‐Braxton L , Widmer HR , Valverde J , Hefti F ( 1995. ) Igf1 gene disruption results in reduced brain size, CNS hypomyelination, and loss of hippocampal granule and striatal parvalbumin‐containing neurons . Neuron 14 : 717 – 730 . [DOI] [PubMed] [Google Scholar]
- 10. Berger J , Molzer B , Fae I , Bernheimer H ( 1994. ) X‐linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes . Biochem Biophys Res Commun 205 : 1638 – 1643 . [DOI] [PubMed] [Google Scholar]
- 11. Bergoffen J , Scherer SS. , Wang S , Oronzi SM , Bone LJ , Paul DL , Chen K , Lensch MW , Chance PF , Fischbeck KH ( 1993. ) Connexin mutations in X‐linked Charcot‐Marie‐Tooth disease . Science 262 : 2039 – 2041 . [DOI] [PubMed] [Google Scholar]
- 12. Bermingham JR Jr , Scherer SS , O'Connell S , Arroyo E , Kalla KA , Powell FL , Rosenfeld MG ( 1996. ) Tst‐1/Oct‐6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration . Genes Dev 10 : 1751 – 1762 . [DOI] [PubMed] [Google Scholar]
- 13. Boison D , Stoffel W ( 1994. ) Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein‐deficient mice . Proc Natl Acad Sci (USA) 91 : 11709 – 11713 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 14. Boison D , Bussow H , D'Urso D , Muller HW , Stoffel W ( 1995. ) Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths . J Neurosci 5 : 5502 – 5513 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 15. Bone LJ , Deschenes SM , Balice‐Gordon RJ , Fischbeck KH , Scherer SS ( 1997. ) Connexin32 and X‐linked Charcot‐Marie‐Tooth disease . Neurobiol Dis 4 : 221 – 230 . [DOI] [PubMed] [Google Scholar]
- 16. Bosio A , Binczek E , Stoffel W ( 1996. ) Functional breakdown of the lipid bilayer of the myelin membrane in central and peripheral nervous system by disrupted galactocerebroside synthesis . Proc Natl Acad Sci (USA) 93 : 13280 – 13285 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 17. Bosio A , Bussow H , Adam J , Stoffel W ( 1998. ) Galactosphingolipids and axono‐glial interaction in myelin of the central nervous system . Cell Tissue Res 292 : 199 – 210 . [DOI] [PubMed] [Google Scholar]
- 18. Bruzzone R , White TW , Scherer SS , Fischbeck KH , Paul DL ( 1994. ) Null mutations of connexin32 in patients with X‐linked Charcot‐Marie‐Tooth disease . Neuron 13 : 1253 – 1260 . [DOI] [PubMed] [Google Scholar]
- 19. Canoll PD , Petanceska S , Schlessinger J , Musacchio JM ( 1996. ) Three forms of RPTP‐beta are differentially expressed during gliogenesis in the developing rat brain and during glial cell differentiation in culture . J Neurosci Res 44 : 199 – 215 . [DOI] [PubMed] [Google Scholar]
- 20. Carenini S , Montag D , Cremer H , Schachner M , Martini R ( 1996. ) Absence of the myelin‐associated glycoprotein (MAG) and the neural cell adhesion molecule (N‐CAM) interferes with the maintenance, but not with the formation of peripheral myelin . Cell Tissue Res 287 : 3 – 9 . [DOI] [PubMed] [Google Scholar]
- 21. Carraway KL , Weber JL , Unger MJ , Ledesma J , Yu N , Gassmann M , Lai C ( 1997. ) Neuregulin‐2, a new ligand of ErbB3/ErbB4‐receptor tyrosine kinases . Nature 387 : 512 – 516 . [DOI] [PubMed] [Google Scholar]
- 22. Chang H , Riese DJ 2nd , Gilbert W , Stern DF , McMahan UJ ( 1997. ) Ligands for ErbB‐family receptors encoded by a neuregulin‐like gene . Nature 387 : 509 – 512 . [DOI] [PubMed] [Google Scholar]
- 23. Chavrier P , Zerial M , Lemaire P , Almendral J , Bravo R , Charnay P ( 1988. ) A gene encoding a protein with zinc fingers is activated during G0/G1 in cultured cells . EMBO J 7 : 29 – 35 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 24. Chen Y , Medvedev A , Ruzanov P , Marvin KW , Jetten AM ( 1997. ) cDNA cloning, genomic structure, and chromosome mapping of the human epithelial membrane protein CL‐20 gene (EMP1), a member of the PMP22 family . Genomics 41 : 40 – 48 . [DOI] [PubMed] [Google Scholar]
- 25. Coetzee T , Fujita N , Dupree J , Shi R , Blight A , Suzuki K , Suzuki K , Popko B ( 1996. ) Myelination in the absence of galactocerebroside and sulfatide: normal structure with abnormal function and regional instability . Cell 86 : 209 – 219 . [DOI] [PubMed] [Google Scholar]
- 26. Coetzee T , Suzuki K , Popko B ( 1998. ) New perspectives on the function of myelin galactolipids . Trends Neurosci 21 : 126 – 130 . [DOI] [PubMed] [Google Scholar]
- 27. Colello RJ , Pott U ( 1997. ) Signals that initiate myelination in the developing mammalian nervous system . Mol Neurobiol 15 : 83 – 100 . [DOI] [PubMed] [Google Scholar]
- 28. Cremers FP , Pfeiffer RA , van de Pol TJ , Hofker MH , Kruse TA , Wieringa B , Ropers HH ( 1987. ) An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13‐q22 region . Hum Genet 77 : 23 – 27 . [DOI] [PubMed] [Google Scholar]
- 29. D'Urso D , Brophy PJ , Staugaitis SM , Gillespie CS , Frey AB , Stempak JG , Colman DR ( 1990. ) Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction . Neuron 4 : 449 – 460 . [DOI] [PubMed] [Google Scholar]
- 30. D'Urso D , Müller HW ( 1997. ) Ins and outs of peripheral myelin protein‐22: mapping transmembrane topology and intracellular sorting . J Neurosci Res 49 : 551 – 562 . [DOI] [PubMed] [Google Scholar]
- 31. D'Urso D , Schmalenbach C , Zoidl G , Prior R , Muller HW ( 1997. ) Studies on the effects of altered PMP22 expression during myelination in vitro . J Neurosci Res 48 : 31 – 42 . [DOI] [PubMed] [Google Scholar]
- 32. D'Urso D , Prior R , Greiner‐Petter R , Gabreels‐Festen AA , Muller HW ( 1998. ) Overloaded endoplasmic reticulum‐Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22 . J Neurosci 18 : 731 – 740 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 33. De Cozar M , Lucas M , Monreal J ( 1987. ) lonophoric properties of the proteolipid apoprotein from bovine brain myelin . Biochem Int 14 : 833 – 841 . [PubMed] [Google Scholar]
- 34. Diaz RS , Monreal J , Lucas M ( 1990. ) Calcium movements mediated by proteolipid protein and nucleotides in liposomes prepared with the endogenous lipids from brain white matter . J Neurochem 55 : 1304 – 1309 . [DOI] [PubMed] [Google Scholar]
- 35. Ding Y , Brunden KR ( 1994. ) The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers . J Biol Chem 269 : 10764 – 10770 . [PubMed] [Google Scholar]
- 36. Doyle JP , Colman DR ( 1993. ) Glial‐neuron interactions and the regulation of myelin formation . Curr Opin Cell Biol 5 : 779 – 785 . [DOI] [PubMed] [Google Scholar]
- 37. Duncan ID , Hammang JP , Trapp BD ( 1987. ) Abnormal compact myelin in the myelin‐deficient rat: absence of proteolipid protein correlates with a defect in the intraperiod line . Proc Natl Acad Sci U S A 84 : 6287 – 6291 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 38. Duncan ID , Hammang JP , Goda S , Quarles RH ( 1989. ) Myelination in the jimpy mouse in the absence of proteolipid protein . Glia 2 : 148 – 154 . [DOI] [PubMed] [Google Scholar]
- 39. Dupree JL , Coetzee T , Blight A , Suzuki K , Popko B ( 1998. ) Myelin galactolipids are essential for proper node of Ranvier formation in the CNS . J Neurosci 18 : 1642 – 1649 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 40. Dyck PJ , Thomas PK , Griffin JW , Low PA , Poduslo JF ( 1993. ) Peripheral neuropathy Vol 2 . WB. Saunders Company; , Philadelphia . [Google Scholar]
- 41. Einheber S , Zanazzi G , Ching W , Scherer S , Milner TA , Peles E , Salzer JL ( 1997. ) The axonal membrane protein Caspr, a homologue of neurexin IV, is a component of the septate‐like paranodal junctions that assemble during myelination . J Cell Biol 139 : 1495 – 1506 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 42. Ellis D , Malcolm S ( 1994. ) Proteolipid protein gene dosage effect in Pelizaeus‐Merzbacher disease . Nature Genet 6 : 333 – 334 . [DOI] [PubMed] [Google Scholar]
- 43. Fabbretti E , Edomi P , Brancolini C , Schneider C ( 1995. ) Apoptotic phenotype induced by overexpression of wild‐type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT 1A . Genes Dev 9 : 1846 – 1856 . [DOI] [PubMed] [Google Scholar]
- 44. Filbin MT , Walsh FS , Trapp BD , Pizzey JA , Tennekoon GI ( 1990. ) Role of myelin P0 protein as a homophilic adhesion molecule . Nature 344 : 871 – 872 . [DOI] [PubMed] [Google Scholar]
- 45. Filbin MT , Tennekoon GI ( 1993. ) Homophilic adhesion of the myelin P0 protein requires glycosylation of both molecules in the homophilic pair . J Cell Biol 122 : 451 – 459 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 46. Forss‐Petter S , Werner H , Berger J , Lassmann H , Molzer B , Schwab MH , Bernheimer H , Zimmermann F , Nave KA ( 1997. ) Targeted inactivation of the X‐linked adrenoleukodystrophy gene in mice . J Neurosci Res 50 : 829 – 843 . [DOI] [PubMed] [Google Scholar]
- 47. Fouquet F , Zhou JM , Ralston E , Murray K , Troalen F , Magal E , Robain O , Dubois‐Dalcq M , Aubourg P ( 1997. ) Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system . Neurobiol Dis 3 : 271 – 285 . [DOI] [PubMed] [Google Scholar]
- 48. Frankel WN ( 1998. ) Mouse strain backgrounds: more than black and white . Neuron 20 : 183 . [DOI] [PubMed] [Google Scholar]
- 49. Fruttiger M , Montag D , Schachner M , Martini R ( 1995. ) Crucial role for the myelin‐associated glycoprotein in the maintenance of axon‐myelin integrity . Eur J Neurosci 7 : 511 – 515 . [DOI] [PubMed] [Google Scholar]
- 50. Gabriel JM , Erne B , Pareyson D , Sghirlanzoni A , Taroni F , Steck AJ ( 1997. ) Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 inCharcot‐Marie‐Tooth disease type 1A and hereditaryneuropathy with liability to pressure palsies nerve biopsies . Neurology 49 : 1635 – 1640 . [DOI] [PubMed] [Google Scholar]
- 51. Garbern JY , Cambi F , Tang XM , Sima AA , Vallat JM , Bosch EP , Lewis R , Shy M , Sohi J , Kraft G , Chen KL , Joshi I , Leonard DG , Johnson W , Raskind W , Dlouhy SR , Pratt V , Hodes ME , Bird T , Kamholz J ( 1997. ) Proteolipid protein is necessary in peripheral as well as central myelin . Neuron 19 : 205 – 218 . [DOI] [PubMed] [Google Scholar]
- 52. Garcia CA , Malamut RE , England JD , Parry GS , Liu P , Lupski JR ( 1995. ) Clinical variability in two pairs of identical twins with the Charcot‐Marie‐Tooth disease type 1A duplication . Neurology 45 : 2090 – 2093 . [DOI] [PubMed] [Google Scholar]
- 53. Gassmann M , Lemke G ( 1997. ) Neuregulins and neureg‐ulin receptors in neural development . Curr Opin Neurobiol 7 : 87 – 92 . [DOI] [PubMed] [Google Scholar]
- 54. Gay CT , Hardies LJ , Rauch RA , Lancaster JL , Plaetke R , DuPont BR , Cody JD , Cornell JE , Herndon RC , Ghidoni PD , Schiff JM , Kaye CI , Leach RJ , Fox PT ( 1997. ) Magnetic resonance imaging demonstrates incomplete myelination in 18q‐syndrome: evidence for myelin basic protein haploinsufficiency . Am J Med Genet 74 : 422 – 431 . [DOI] [PubMed] [Google Scholar]
- 55. Gencic S , Hudson LD ( 1990. ) Conservative amino acid substitution in the myelin proteolipid protein of jimpymsd mice . J Neurosci 10 : 117 – 124 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 56. Giese KP , Martini R , Lemke G , Soriano P , Schachner M ( 1992. ) Disruption of the PO gene in mice leads to abnormal expression of recognition molecules, and degeneration of myelin and axons . Cell 71 : 565 – 576 . [DOI] [PubMed] [Google Scholar]
- 57. Gow A , Friedrich VL , Lazzarini RA ( 1994. ) Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport . J Neurosci Res 37 : 574 – 583 . [DOI] [PubMed] [Google Scholar]
- 58. Gow A , Gragerov A , Gard A , Colman DR , Lazzarini RA ( 1997. ) Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath . J Neurosci 17 : 181 – 189 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 59. Gow A , Lazzarini RA ( 1996. ) A cellular mechanism governing the severity of Pelizaeus‐Merzbacher disease . Nat Genet 13 : 422 – 428 . [DOI] [PubMed] [Google Scholar]
- 60. Gow A , Southwood CM , Lazzarini RA ( 1998. ) Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus‐Merzbacher disease . J Cell Biol 140 : 925 – 934 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 61. Gravel M , Peterson J , Yong VW , Kottis V , Trapp B , Braun PE ( 1996. ) Overexpression of 2′,3′‐cyclic nucleotide 3′‐phosphodiesterasein transgenic mice alters oligodendrocyte development and produces aberrant myelination . Mol Cell Neurosci 7 : 453 – 466 . [DOI] [PubMed] [Google Scholar]
- 62. Griffiths IR , Scott I , McCulloch MC , Barrie JA , McPhilemy K , Cattanach BM ( 1990. ) Rumpshaker mouse: a new X‐linked mutation affecting myelination: evidence for a defect in PLP expression . J Neurocytol 19 : 273 – 283 . [DOI] [PubMed] [Google Scholar]
- 63. Griffiths I , Klugmann M , Anderson T , Yool D , Thomson C , Schwab MH , Schneider A , Zimmermann F , McCulloch M , Nadon N , Nave KA ( 1998. ) Axonal swellings and degeneration in mice lacking the major proteolipid of myelin . Science 280 , 1610 – 1613 . [DOI] [PubMed] [Google Scholar]
- 64. Guenard V , Montag D , Schachner M , Martini R ( 1996. ) Onion bulb cells in mice deficient for myelin genes share molecular properties with immature, differentiated non‐myelinating, and denervated Schwann cells . Glia 18 : 27 – 38 . [DOI] [PubMed] [Google Scholar]
- 65. Hanemann CO , Stoll G , D'Urso D , Fricke W , Martin JJ , Van‐Broeckhoven C , Mancardi GL , Bartke I , Müller HW ( 1994. ) Peripheral myelin protein‐22 expression in Char‐cot‐Marie‐Tooth disease type 1a sural nerve biopsies . J Neurosci Res 37 : 654 – 659 . [DOI] [PubMed] [Google Scholar]
- 66. Harari D , Finkelstein D , Bernard O ( 1997. ) FGF plays a subtle role in oligodendrocyte maintenance in vivo . J Neurosci Res 49 : 404 – 415 . [PubMed] [Google Scholar]
- 67. Henry EW , Sidman RL ( 1988. ) Long lives for homozygous trembler mutant mice despite virtual absence of peripheral nerve myelin . Science 241 : 344 – 346 . [DOI] [PubMed] [Google Scholar]
- 68. Hodes ME , Dlouhy SR ( 1996. ) The proteolipid protein gene: double, double,…and trouble . Am J Hum Genet 59 : 12 – 15 . [PMC free article] [PubMed] [Google Scholar]
- 69. Hoogendijk JE , Hensels GW , Gabreels‐Festen AA , Gabreels FJ , Janssen EA , De Jonghe P , Martin JJ , Van Broeckhoven C , Valentijn LJ , Baas F , et al. ( 1992. ) De‐novo mutation in hereditary motor and sensory neuropathy type I . Lancet 339 : 1081 – 1082 . [DOI] [PubMed] [Google Scholar]
- 70. Hortsch M ( 1996. ) The L1 family of neural cell adhesion molecules: old proteins performing new tricks . Neuron 17 : 587 – 593 . [DOI] [PubMed] [Google Scholar]
- 71. Hudson LD , Ko N , Kim JG ( 1996. ) Control of myelin gene expression . In : Jessen KR , Richardson WD ( Eds ): Glial cell development: basic principles and clinical relevance ( Oxford : Bios Scientific Publishers; ) pp. 101 – 121 . [Google Scholar]
- 72. Huxley C , Passage E , Manson A , Putzu G , Figarella‐Branger D , Pellissier JF , Fontes M ( 1996. ) 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 . [DOI] [PubMed] [Google Scholar]
- 73. Huxley C , Passage E , Robertson AM , Youl B , Huston S , Manson A , Saberan‐Djoniedi D , Figarella‐Branger D , Pellissier JF , Thomas PK , Fontes M ( 1998. ) 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 . [DOI] [PubMed] [Google Scholar]
- 74. Ionasescu VV , Searby CC , Ionasescu R , Chatkupt S , Patel N , Koenigsberger R ( 1997. ) Dejerine‐Sottas neuropathy in mother and son with same point mutation of PMP22 gene . Muscle Nerve 20 : 97 – 99 . [DOI] [PubMed] [Google Scholar]
- 75. Jaegle M , Mandemakers W , Broos L , Zwart R , Karis A , Visser P , Grosveld F , Meijer D ( 1996. ) The POU factor Oct‐6 and Schwann cell differentiation . Science 273 : 507 – 510 . [DOI] [PubMed] [Google Scholar]
- 76. Johnson RS , Roder JC , Riordan JR ( 1995. ) Over‐expression of the DM‐20 myelin proteolipid causes central nervous system demyelination in transgenic mice . J Neurochem 64 : 967 – 976 . [DOI] [PubMed] [Google Scholar]
- 77. Jung M , Schneider A , Nave KA. ( 1995. ) Dominant‐negative action of mutations in the PLP/DM‐20 gene and direct interaction of PLP polypeptides in vivo . J Neurochem 64 : S101 . [Google Scholar]
- 78. Jung M , Sommer I , Schachner M , Nave KA ( 1996. ) Monoclonal antibody O10 defines a conformationally sensitive cell‐ surface epitope of proteolipid protein (PLP): evidence that PLP misfolding underlies dysmyelination in mutant mice . J Neurosci 16 : 7920 – 7929 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 79. Kadmon G , Altevogt P ( 1997. ) The cell adhesion molecule L1: species‐ and cell‐type‐dependent multiple binding mechanisms . Differentiation 61 : 143 – 150 . [DOI] [PubMed] [Google Scholar]
- 80. Kagawa T , Ikenaka K , Inoue Y , Kuriyama S , Tsujii T , Nakao J , Nakajima K , Aruga J , Okano H , Mikoshiba K ( 1994. ) Glial cell degeneration and hypomyelination caused by overexpression of myelin proteolipid protein gene . Neuron 13 : 427 – 442 . [DOI] [PubMed] [Google Scholar]
- 81. Kamholz J , Shy M , Scherer S ( 1994. ) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot‐Marie‐Tooth disease type 1A . Ann Aeuro 36 : 451 – 452 . [DOI] [PubMed] [Google Scholar]
- 82. Kaplan MR , Meyer‐Franke A , Lambert S , Bennett V , Duncan ID , Levinson SR , Barres BA ( 1997. ) Induction of sodium channel clustering by oligodendrocytes . Nature 386 : 724 – 728 . [DOI] [PubMed] [Google Scholar]
- 83. Kioussi C , Gross MK , Gruss P ( 1995. ) Pax3: a paired domain gene as a regulator in PNS myelination . Neuron 15 : 553 – 562 . [DOI] [PubMed] [Google Scholar]
- 84. Kirschner DA , Ganser , AL ( 1980. ) Compact myelin exists in the absence of basic protein in the shiverer mutant mouse . Nature 283 : 207 – 210 . [DOI] [PubMed] [Google Scholar]
- 85. Kitagawa K , Sinoway MR Yang C , Gould RM , Colman DR ( 1993. ) A proteolipid protein gene family: expression in sharks and rays and possible evolution from an ancestral gene encoding a pore‐forming polypeptide . Neuron 11 : 433 – 448 . [DOI] [PubMed] [Google Scholar]
- 86. Klugmann M , Schwab MH , Puhlhofer A , Schneider A , Zimmermann F , Griffiths IR , Nave KA ( 1997. ) Assembly of CNS myelin in the absence of proteolipid protein . Neuron 18 : 59 – 70 . [DOI] [PubMed] [Google Scholar]
- 87. Kobayashi H , Hoffman EP , Marks HG ( 1994. ) The rump‐shaker mutation in spastic paraplegia . Nat Genet 7 : 351 – 352 . [DOI] [PubMed] [Google Scholar]
- 88. Kobayashi T , Shinnoh N , Kondo A , Yamada T ( 1997. ) Adrenoleukodystrophy protein‐deficient mice represent abnormality of very long chain fatty acid metabolism . Biochem Biophys Res Commun 232 : 631 – 636 . [DOI] [PubMed] [Google Scholar]
- 89. Koch T , Brugger T , Bach A , Gennarini G , Trotter J ( 1997. ) Expression of the immunoglobulin superfamily cell adhesion molecule F3 by oligodendrocyte‐lineage cells . Glia 19 : 199 – 212 . [DOI] [PubMed] [Google Scholar]
- 90. Korenke GC , Fuchs S , Krasemann E , Doerr HG , Wili‐chowski E , Hunneman DH , Hanefeld F ( 1996. ) Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype . Ann Aeuro 40 : 254 – 257 . [DOI] [PubMed] [Google Scholar]
- 91. Korenke GC , Roth C , Krasemann E , Hufner M , Hunneman DH , Hanefeld F ( 1997. ) Variability of endocrinological dysfunction in 55 patients with X‐linked adrenoleucodys‐trophy: clinical, laboratory and genetic findings . Eur J Endocrinol 137 : 40 – 47 . [DOI] [PubMed] [Google Scholar]
- 92. Kuhlbrodt K , Herbarth B , Sock E , Hermans‐Borgmeyer I , Wegner M ( 1998. ) Sox 10, a novel transcriptional modulator in glial cells . J Neurosci 18 : 237 – 250 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 93. Lassmann H , Bartsch U , Montag D , Schachner M ( 1997. ) Dying‐back oligodendrogliopathy: a late sequel of myelin‐associated glycoprotein deficiency . Glia 19 : 104 – 110 . [PubMed] [Google Scholar]
- 94. Lees MB , Brostoff SW ( 1984. ) Proteins of myelin . In : Myelin ( Ed. Morrell P ) 197 – 224 , Plenum Press; , New York . [Google Scholar]
- 95. Lemke G , Axel R ( 1985. ) Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin . Cell 40 : 501 – 508 . [DOI] [PubMed] [Google Scholar]
- 96. Li C , Trapp B , Ludwin S , Peterson A , Roder J ( 1998. ) Myelin associated glycoprotein modulates glia‐axon contact in vivo . J Neurosci Res 51 : 210 – 217 . [DOI] [PubMed] [Google Scholar]
- 97. Li C , Tropak MB , Gerlai R , Clapoff S , Abramow‐Newerly W , Trapp B , Peterson A , Roder J ( 1994. ) Myelination in the absence of myelin‐associated glycoprotein . Nature 369 : 747 – 750 . [DOI] [PubMed] [Google Scholar]
- 98. Lipsitz D , Goetz BD , Duncan ID ( 1998. ) Apoptotic glial cell death and kinetics in the spinal cord of the myelin‐deficient rat . J Neurosci Res 51 : 497 – 507 . [DOI] [PubMed] [Google Scholar]
- 99. Livesey FJ , O'Brien JA , Li M , Smith AG , Murphy LJ , Hunt SP ( 1997. ) A Schwann cell mitogen accompanying regeneration of motor neurons . Nature 390 : 614 – 618 . [DOI] [PubMed] [Google Scholar]
- 100. Lombard‐Platet G , Savary S , Sarde CO , Mandel JL , Chi‐mini G ( 1996. ) A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern . Proc Natl Acad Sci USA 93 : 1265 – 1269 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 101. Lu JF , Lawler AM , Watkins PA , Powers JM , Moser AB , Moser HW , Smith KD ( 1997. ) A mouse model for X‐linked adrenoleukodystrophy . Proc Natl Acad Sci (USA) 94 : 9366 – 9371 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 102. Lupski JR ( 1998. ) Charcot‐Marie‐Tooth disease: lessons in genetic mechanisms . Mol Med 4 : 3 – 11 . [PMC free article] [PubMed] [Google Scholar]
- 103. Magyar JP , Martini R , Ruelicke T , Aguzzi A , Adlkofer K , Dembic Z , Zielasek J , Toyka ( 1997. ) Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage . J Neurosci 16 : 5351 – 5360 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 104. Martini R , Schachner M ( 1986. ) Immunoelectron microscopic localization of neural cell adhesion molecules (L1, N‐CAM, and MAG) and their shared carbohydrate epitope and myelin basic protein in developing sciatic nerve . J Cell 60 103 : 2439 – 2448 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 105. Martini R , Mohajeri MH , Kasper S , Giese KP , Schachner M ( 1995a. ) Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin . J Neurosci 15 : 4488 – 4495 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 106. Martini R , Zielasek J , Toyka KV , Giese KP , Schachner M ( 1995b. ) Protein zero (PO)‐deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies . Nature Genet 11 : 281 – 286 . [DOI] [PubMed] [Google Scholar]
- 107. Martini R , Schachner M ( 1997. ) Molecular bases of myelin formation as revealed by investigations on mice deficient in glial cell surface molecules . Glia 19 : 298 – 310 . [PubMed] [Google Scholar]
- 108. Mastronardi FG , Ackerley CA , Arsenault L , Roots Bl , Moscarello MA ( 1993. ) Demyelination in a transgenic mouse: a model for multiple sclerosis . J Neurosci Res 36 : 315 – 324 . [DOI] [PubMed] [Google Scholar]
- 109. Meyer D , Birchmeier C ( 1995. ) Multiple essential functions of neuregulin in development . Nature 378 : 386 – 390 . [DOI] [PubMed] [Google Scholar]
- 110. Meyer D , Yamaai T , Garratt A , Riethmacher‐Sonnenberg E , Kane D , Theill LE , Birchmeier C ( 1997. ) Isoform‐specif‐ic expression and function of neuregulin . Development 124 : 3575 – 3586 . [DOI] [PubMed] [Google Scholar]
- 111. Milner RJ , Lai C , Nave KA , Lenoir D , Ogata J , Sutcliffe JG ( 1985. ) Nucleotide sequences of two mRNAs for rat brain myelin proteolipid protein . Cell 42 : 931 – 939 . [DOI] [PubMed] [Google Scholar]
- 112. Molineaux SM , Engh H , De Ferra F , Hudson L , Lazzarini RA ( 1986. ) Recombination within the myelin basic protein gene created the dysmyelinating shiverer mouse mutation . Proc Natl Acad Sci USA 83 : 7542 – 7546 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 113. Montag D , Giese KP , Bartsch U , Martini R , Lang Y , Bluth‐mann H , Karthigasan J , Kirschner DA , Wintergerst ES , Nave KA , et al ( 1994. ) Mice deficient for the myelin‐associated glycoprotein show subtle abnormalities in myelin . Neuron 13 : 229 – 246 . [DOI] [PubMed] [Google Scholar]
- 114. Monuki ES , Kuhn R , Weinmaster G , Trapp BD , Lemke G ( 1990. ) Expression and activity of the POU transcription factor SCIP Science 249 : 1300 – 1303 . [DOI] [PubMed] [Google Scholar]
- 115. Moser HW , Powers JM , Smith KD ( 1995. ) Adrenoleukodystrophy: molecular genetics, pathology, and Lorenzo's oil . Brain Pathol 5 : 259 – 266 . [DOI] [PubMed] [Google Scholar]
- 116. Mosser J , Douar AM , Sarde CO , Kioschis P , Feil R , Moser H , Poustka AM , Mandel JL , Aubourg P ( 1993. ) Putative X‐linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters . Nature 361 726 – 730 . [DOI] [PubMed] [Google Scholar]
- 117. Mosser J , Lutz Y , Stoeckel ME , Sarde CO , Kretz C , Douar AM , Lopez J , Aubourg P , Mandel JL ( 1994. ) The gene responsible for adrenoleukodystrophy encodes a peroxi‐somal membrane protein . Hum Mol Genet 3 : 265 – 271 . [DOI] [PubMed] [Google Scholar]
- 118. Nadon NL , Arnheiter H , Hudson LD ( 1994. ) A combination of PLP and DM20 transgenes promotes partial myelination in the jimpy mouse . J Neurochem 63 : 822 – 833 . [DOI] [PubMed] [Google Scholar]
- 119. Naef R , Adlkofer K , Lescher B , Suter U ( 1997. ) Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies . Mol Cell Neurosci 9 : 13 – 25 . [DOI] [PubMed] [Google Scholar]
- 120. Nave KA , Boespflug‐Tanguy O ( 1996. ) X‐linked developmental defects of myelination: from mouse mutants to human genetic diseases . Neuroscientist 2 : 33 – 43 . [Google Scholar]
- 121. Nave KA , Bloom FE , Milner RJ ( 1987. ) A single nucleotide difference in the gene for myelin proteolipid protein defines the jimpy mutation in mouse . Neurochem 49 : 1873 – 1877 . [DOI] [PubMed] [Google Scholar]
- 122. Nave KA , Lai C , Bloom FE , Milner RJ ( 1986. ) Jimpy mutant mouse: a 74‐base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing . Proc Natl Acad Sci U S A 83 : 9264 – 9268 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 123. Noebels JL , Marcom PK , Jalilian‐Tehrani MH ( 1991. ) Sodium channel density in hypomyelinated brain increased by myelin basic protein gene deletion . Nature 352 : 431 – 434 . [DOI] [PubMed] [Google Scholar]
- 124. Notterpek L , Shooter EM , Snipes GJ ( 1997. ) Upregulation of the endosomal‐lysosomal pathway in the trembler‐J neuropathy . J Neurosci 17 : 4190 – 4200 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 125. Patel PI , Lupski JR ( 1994. ) Charcot‐Marie‐Tooth disease: a new paradigm for the mechanism of inherited disease . Trends Genet 10 : 128 – 133 . [DOI] [PubMed] [Google Scholar]
- 126. Peles E , Ben‐Levy R , Tzahar E , Liu N , Wen D , Yarden Y ( 1993. ) Cell‐type specific interaction of Neu differentiation factor (NDF/heregulin) with Neu/HER‐2 suggests complex ligand‐receptor relationships . EMBO J 12 : 961 – 971 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 127. Peles E , Nativ M , Campbell PL , Sakurai T , Martinez R , Lev S , Clary DO , Schilling J , Barnea G , Plowman GD , et al ( 1995. ) The carbonic anhydrase domain of receptor tyrosine phosphatase beta is a functional ligand for the axonal cell recognition molecule contactin . Cell 82 : 251 – 260 . [DOI] [PubMed] [Google Scholar]
- 128. Pingault V , Bondurand N , Kuhlbrodt K , Goerich DE , Prehu MO , Puliti A , Herbarth B , Hermans‐Borgmeyer I , Legius E , Matthijs G , Amiel J , Lyonnet S , Ceccherini I , Romeo G , Smith JC , Read AP , Wegner M , Goossens M ( 1998. ) SOX10 mutations in patients with Waardenburg‐Hirschsprung disease . Nat Genet 18 : 171 – 173 . [DOI] [PubMed] [Google Scholar]
- 129. Popko B , Puckett C , Lai E , Shine HD , Readhead C , Takahashi N , Hunt SW , Sidman RL , Hood L ( 1987. ) Myelin deficient mice: expression of myelin basic protein and generation of mice with varying levels of myelin . Cell 48 : 713 – 721 . [DOI] [PubMed] [Google Scholar]
- 130. Popot JL , Pham Dinh D , Dautigny A ( 1991. ) Major myelin proteolipid: the 4‐alpha‐helix topology J Membr Biol 120 : 233 – 246 . [DOI] [PubMed] [Google Scholar]
- 131. Powers JM , Moser HW ( 1998. ) Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis . Brain Pathol 8 : 101 – 120 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 132. Privat A , Jaque C , Bourre JM , Dupouye P , Baumann N ( 1979. ) Absence of the major dense line in myelin of the mutant mouse ‘shiverer’ . Neurosci Lett 12 : 107 – 112 . [DOI] [PubMed] [Google Scholar]
- 133. Ranscht B ( 1988. ) Sequence of contactin, a 130‐kD glycoprotein concentrated in areas of interneuronal contact, defines a new member of the immunoglobulin supergene family in the nervous system . J Cell Biol 107 : 1561 – 1573 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 134. Raskind WH , Williams CA , Hudson LD , Bird TD ( 1991. ) Complete deletion of the proteolipid protein gene (PLP) in a family with X‐linked Pelizaeus‐Merzbacher disease . Am J Hum Genet 49 : 1355 – 1360 . [PMC free article] [PubMed] [Google Scholar]
- 135. Readhead C , Popko B , Takahashi N , Shine HD , Saavedra RA , Sidman RL , Hood L ( 1987. ) Expression of a myelin basic protein gene in transgenic shiverer mice: correction of the dysmyelinating phenotype . Cell 48 : 703 – 712 . [DOI] [PubMed] [Google Scholar]
- 136. Readhead C , Schneider A , Griffiths I , Nave KA ( 1994. ) Premature arrest of myelin formation in transgenic mice with increased dosage of the proteolipid protein gene . Neuron 12 : 583 – 595 . [DOI] [PubMed] [Google Scholar]
- 137. Reiter LT , Murakami T , Koeuth T , Pentao L , Muzny DM , Gibbs RA , Lupski JR ( 1996. ) A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon‐like element . Nature Genet 12 : 288 – 297 . [DOI] [PubMed] [Google Scholar]
- 138. Riethmacher D , Sonnenberg‐Riethmacher E , Brinkmann V , Yamaai T , Lewin GR , Birchmeier C ( 1997. ) Severe neuropathies in mice with targeted mutations in the ErbB3 receptor . Nature 389 : 725 – 730 . [DOI] [PubMed] [Google Scholar]
- 139. Roach A , Boylan K , Horvath S , Prusiner SB , Hood LE ( 1983. ) Characterization of cloned cDNA representing rat myelin basic protein: absence of expression in brain of shiverer mutant mice . Cell 34 : 799 – 806 . [DOI] [PubMed] [Google Scholar]
- 140. Roach A , Takahashi N , Pravtcheva D , Ruddle F , Hood L ( 1985. ) Chromosomal mapping of mouse myelin basic protein gene and structure and transcription of the partially deleted gene in shiverer mutant mice . Cell 42 : 149 – 155 . [DOI] [PubMed] [Google Scholar]
- 141. Rosenbluth J ( 1980. ) Central myelin in the mouse mutant shiverer . J Comp Neurol 194 : 639 – 648 . [DOI] [PubMed] [Google Scholar]
- 142. Roussel G , Neskovic NM , Trifilieff E , Artault JC , Nussbaum JL ( 1987. ) Arrest of proteolipid transport through the Golgi apparatus in Jimpy brain . J Neurocytol 16 : 195 – 204 . [DOI] [PubMed] [Google Scholar]
- 143. Saugier‐Veber P , Munnich A , Bonneau D , Rozet JM , Le Merrer M , Gil R , Boespflug‐Tanguy O ( 1994. ) X‐linked spastic paraplegia and Pelizaeus‐Merzbacher disease are allelic disorders at the proteolipid protein locus . Nat Genet 6 : 257 – 262 . [DOI] [PubMed] [Google Scholar]
- 144. Scherer SS , Bone LJ , Deschenes SM , Fischbeck K , Balice‐Gordon RJ ( 1997. ) The role of gap junction protein connexin32 in the myelin sheath , in : Cell biology and pathology of myelin: evolving biological concepts and therapeutic approaches ( Eds. Devon R.M. , Doucette R. , Juurlink B.H.J. , Nazarali A.J. , Schreyer D.J. , and Verge V.M.K. Plenum Press; , New York , pp. 83 – 102 . [Google Scholar]
- 145. Schliess F , Stoffel W ( 1991. ) Evolution of the myelin integral membrane proteins of the central nervous system . Biol Chem Hoppe Seyler 372 : 865 – 874 . [DOI] [PubMed] [Google Scholar]
- 146. Schneider A , Montague P , Griffiths I , Fanarraga M , Kennedy P , Brophy P , Nave KA ( 1992. ) Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene . Nature 358 : 758 – 761 . [DOI] [PubMed] [Google Scholar]
- 147. Schneider AM , Griffiths IR , Readhead C , Nave KA ( 1995. ) Dominant‐negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein . Proc Natl Acad Sci USA 92 : 4447 – 4451 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 148. Schneider C , King RM , Philipson L ( 1988. ) Genes specifically expressed at growth arrest of mammalian cells . Cell 54 : 787 – 793 . [DOI] [PubMed] [Google Scholar]
- 149. Schneider‐Maunoury S , Topilko P , Seitandou T , Levi G , Cohen‐Tannoudji M , Pournin S , Babinet C , Charnay P ( 1993. ) Disruption of Krox‐20 results in alteration of rhom‐bomeres 3 and 5 in the developing hindbrain . Cell 75 : 1199 – 1214 . [DOI] [PubMed] [Google Scholar]
- 150. Seitelberger F ( 1995. ) Neuropathology and genetics of Pelizaeus‐Merzbacher disease . Brain Pathol 5 : 267 – 273 . [DOI] [PubMed] [Google Scholar]
- 151. Sereda M , Griffiths I , Puhlhofer A , Stewart H , Rossner MJ , Zimmerman F , Magyar JP , Schneider A , Hund E , Meinck HM , Suter U , Nave KA ( 1996. ) A transgenic rat model of Charcot‐Marie‐Tooth disease . Neuron 16 : 1049 – 1060 . [DOI] [PubMed] [Google Scholar]
- 152. Shapiro L , Doyle JP , Hensley P , Colman DR , Hendrikson WA ( 1996. ) Crystal structure of the extracellular domain from P0, the major structural protein of the peripheral nerve myelin . Neuron 17 : 435 – 449 . [DOI] [PubMed] [Google Scholar]
- 153. Shine HD , Readhead C , Popko B , Hood L , Sidman RL ( 1992. ) Morphometric analysis of normal, mutant, and transgenic CNS: correlation of myelin basic protein expression to myelinogenesis . J Neurochem. 58 : 342 – 349 . [DOI] [PubMed] [Google Scholar]
- 154. Sidman RL , Dickie MM , Apple SH ( 1964. ) Mutant mice (quaking and jimpy) with deficient myelination in the central nervous system . Science 144 : 309 – 311 . [DOI] [PubMed] [Google Scholar]
- 155. Sinoway MP , Kitagawa K , Timsit S , Hashim GA , Colman DR ( 1994. ) Proteolipid protein interactions in transfectants: implications for myelin assembly . J Neurosci Res 37 : 551 – 562 . [DOI] [PubMed] [Google Scholar]
- 156. Sistermans EA , De Wijs IJ , De Coo RF , Smit LM , Menko FH , Van Oost BA ( 1996. ) 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 : 337 – 339 . [DOI] [PubMed] [Google Scholar]
- 157. Skoff RP ( 1982. ) Increased proliferation of oligodendrocytes in the hypomyelinated mouse mutant‐jimpy . Brain Res 248 : 19 – 31 . [DOI] [PubMed] [Google Scholar]
- 158. Snipes GJ , Suter U , Welcher AA , Shooter EM ( 1992. ) Characterization of a novel peripheral nervous system myelin protein (PMP‐22/SR13) . J Cell Biol 117 : 225 – 238 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 159. Southard‐Smith EM , Kos L , Pavan WJ ( 1998. ) Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model . Nat Genet 18 : 60 – 64 . [DOI] [PubMed] [Google Scholar]
- 160. Sprinkle TJ ( 1989. ) 2′,3′‐cyclic nucleotide 3′‐phosphodiesterase, an oligodendrocyte‐Schwann cell and myelin‐associated enzyme of the nervous system . Crit Rev Neurobiol 4 : 235 – 301 . [PubMed] [Google Scholar]
- 161. Stoffel W , Bosio A ( 1997. ) Myelin glycolipids and their functions . Curr Opin Neurobioll : 654 – 661 . [DOI] [PubMed]
- 162. Suter U , Welcher AA , Ozcelik T , Snipes GJ , Kosaras B , Francke U , Billings‐Gagliardi S , Sidman RL , Shooter EM ( 1992a. ) Trembler mouse carries a point mutation in a myelin gene . Nature 356 : 241 – 244 . [DOI] [PubMed] [Google Scholar]
- 163. Suter U , Moskow JJ , Welcher AA , Snipes GJ , Kosaras B , Sidman RL , Buchberg AM , Shooter EM ( 1992b. ) A leucine‐to‐proline mutation in the putative first transmembrane domain of the 22‐kDa peripheral myelin protein in the trembler‐J mouse . Proc Natl Acad Sci USA 89 : 4382 – 4386 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 164. Suter U , Snipes GJ ( 1995a. ) Peripheral myelin protein 22: facts and hypotheses . J Neurosci Res 40 : 145 – 151 . [DOI] [PubMed] [Google Scholar]
- 165. Suter U , Snipes GJ ( 1995b. ) Biology and genetics of hereditary motor and sensory neuropathies . Annu Rev Neurosci 18 : 45 – 75 . [DOI] [PubMed] [Google Scholar]
- 166. Swiatek PJ , Gridley T ( 1993. ) Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20 . Genes Dev 11 : 2071 – 2084 . [DOI] [PubMed] [Google Scholar]
- 167. Tassabehji M , Newton VE , Liu XZ , Brady A , Donnai D , Krajewska‐Walasek M , Murday V , Norman A , Obersztyn E , Reardon W , et al ( 1995. ) The mutational spectrum in Waardenburg syndrome . Hum Mol Genet 11 : 2131 – 2137 . [DOI] [PubMed] [Google Scholar]
- 168. Taylor V , Suter U ( 1996. ) Epithelial membrane protein‐2 and epithelial membrane protein‐3: two novel members of the peripheral myelin protein 22 gene family . Gene 175 : 115 – 120 . [DOI] [PubMed] [Google Scholar]
- 169. Thomson CE , Montague P , Jung M , Nave KA , Griffiths IR ( 1997. ) Phenotypic severity of murine Pip mutants reflects in vivo and in vitro variations in transport of PLP isoproteins . Glia 20 : 322 – 332 . [DOI] [PubMed] [Google Scholar]
- 170. Topilko P , Schneider‐Maunoury S , Levi G , Baron‐Van Evercooren A , Chennoufi AB , Seitanidou T , Babinet C , Charnay P ( 1994. ) Krox‐20 controls myelination in the peripheral nervous system . Nature 371 : 796 – 799 . [DOI] [PubMed] [Google Scholar]
- 171. Vabnick I , Messing A , Chiu SY , Levinson SR , Schachner M , Roder J , Li C , Novakovic S , Shrager P ( 1997. ) Sodium channel distribution in axons of hypomyelinated and MAG null mutant mice . J Neurosci Res 50 : 321 – 336 . [DOI] [PubMed] [Google Scholar]
- 172. Valentijn LJ , Baas F , Wolterman RA , Hoogendijk JE , van den Bosch NH , Zorn L , Gabreels‐Festen AW , De Visser M , Bolhuis PA ( 1992. ) Identical point mutations of PMP‐22 in Trembler‐J mouse and Charcot‐Marie‐Tooth disease type 1A . Nat Genet 2 : 288 – 291 . [DOI] [PubMed] [Google Scholar]
- 173. Vallat JM , Sindou P , Preux PM , Tabaraud F , Milor AM , Couratier P , LeGuern E , Brice A ( 1996. ) Ultrastructural PMP22 expression in inherited demyelinating neuropathies . Ann Neurol. 39 : 813 – 817 . [DOI] [PubMed] [Google Scholar]
- 174. Warner LE , Hilz MJ , Appel SH , Killian JM , Kolodry EH , Karpati G , Carpenter S , Watters GV , Wheeler C , Witt D , Bodell A , Nelis E , Van Broeckhoven C , Lupski JR ( 1996. ) Clinical phenotypes of different MPZ (PO) mutations may include Charcot‐Marie‐Tooth type 1B, Dejerine‐Sottas, and congenital hypomyelination . Neuron : 451 – 460 . [DOI] [PubMed]
- 175. Warner LE , Mandas P , Butler LJ , McDonald CM , Keppen L , Koob KG , Lupski JR ( 1998. ) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies . Nat Genet 4 : 382 – 384 . [DOI] [PubMed] [Google Scholar]
- 176. Warner LE , Reiter LT , Murakami T , Lupski JR ( 1996. ) Molecular mechanisms for Charcot‐Marie‐Tooth disease and related demyelinating peripheral neuropathies . Cold Spring Harb Symp Quant Biol 61 : 659 – 671 . [PubMed] [Google Scholar]
- 177. Waxman SG ( 1997. ) Axon‐glia interactions: building a smart nerve fiber . Curr Biol 7 : R406 – R410 . [DOI] [PubMed] [Google Scholar]
- 178. Weimbs T , Stoffel W ( 1992. ) Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide‐ bonded, and fatty acid thioester‐linked cysteine residues and implications for the membrane topology of PLP . Biochemistry 31 : 12289 – 12296 . [DOI] [PubMed] [Google Scholar]
- 179. Weinstein DE , Burrola PG , Lemke G ( 1995. ) Premature Schwann cell differentiation and hypermyelination in mice expressing a targeted antagonist of the POU transcription factor SCIP Mol Cell Neurosci 6 : 212 – 229 . [DOI] [PubMed] [Google Scholar]
- 180. Wise CA , Garcia CA , Davis SN , Heju Z , Pentao L , Patel PI , Lupski JR ( 1993. ) Molecular analyses of unrelated Charcot‐Marie‐Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication . Am. J. Hum. Genet. 53 : 853 – 63 . [PMC free article] [PubMed] [Google Scholar]
- 181. Wong MH , Filbin MT ( 1994. ) The cytoplasmic domain of the myelin PO protein influences the adhesive interactions of its extracellular domain . J Cell Biol 126 : 1089 – 1097 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 182. Wong MH , Filbin MT ( 1996. ) Dominant‐negative effect on adhesion by myelin Po protein truncated in its cytoplasmic domain . J Cell Biol 134 : 1531 – 1541 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 183. Wrabetz L , Feltri M , Quattrini A , Arona M , Trapp B , Messing A ( 1996. ) Increased P0 glycoprotein gene dosage causes a dysmyelinating peripheral neuropathy in trans‐genic mice . Soc Neurosci Abstr 22 : 1980 . [Google Scholar]
- 184. Xu Z , Dong DL , Cleveland DW ( 1994. ) Neuronal intermediate filaments: new progress on an old subject . Curr Opin Neurobiol 4 : 655 – 661 . [DOI] [PubMed] [Google Scholar]
- 185. Yamamoto Y , Mizuno R , Nishimura T , Ogawa Y , Yoshikawa H , Fujimura H , Adachi E , Kishimoto T , Yanagihara T , Sakoda S ( 1994. ) Cloning and expression of myelin‐associated oligodendrocytic basic protein. A novel basic protein constituting the central nervous system myelin . J Biol Chem 269 : 31725 – 31730 . [PubMed] [Google Scholar]
- 186. Ye P , Carson J , D'Ercole AJ ( 1995. ) In vivo actions of insulin‐like growth factor‐I (IGF‐I) on brain myelination: studies of IGF‐I and IGF binding protein‐1 (IGFBP‐1) transgenic mice . J Neurosci 15 : 7344 – 7356 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 187. Yin X , Crawford TO , Griffin JW , Tu Ph , Lee VM , Li C , Roder J , Trapp BD ( 1998. ) Myelin‐associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons . J Neurosci 18 : 1953 – 1962 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 188. Yin X , Peterson J , Gravel M , Braun PE , Trapp BD ( 1997. ) CNP Overexpression induces aberrant oligodendrocyte membranes and inhibits MBP accumulation and myelin compaction . J. Neurosc. Res. 50 : 238 – 47 . [DOI] [PubMed] [Google Scholar]
- 189. Yoshikawa H , Nishimura T , Nakatsuji Y , Fujimura H , Himoro M , Hayasaka K , Sakoda S , Yanagihara T ( 1994. ) Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot‐Marie‐Tooth disease type 1A . Ann. Neurol. 35 : 445 – 450 . [DOI] [PubMed] [Google Scholar]
- 190. Zhang D , Sliwkowski MX , Mark M , Frantz G , Akita R , Sun Y , Hillan K , Crowley C , Brush J , Godowski PJ ( 1997. ) Neuregulin‐3 (NRG3): a novel neural tissue‐enriched protein that binds and activates ErbB4 . Proc Natl Acad Sci U S A 94 : 9562 – 9567 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 191. Zhang K , Filbin MT ( 1994. ) Formation of a disulfide bond in the immunoglobulin domain of the myelin P0 protein is essential for its adhesion . J Neurochem 63 : 367 – 370 . [DOI] [PubMed] [Google Scholar]
- 192. Zhang K , Merazga Y , Filbin MT ( 1996. ) Mapping the adhesive domains of the myelin Po protein . J Neurosci Res 45 : 525 – 533 . [DOI] [PubMed] [Google Scholar]
- 193. Zoidl G , Blass‐Kampmann S , D'Urso D , Schmalenbach C , Müller HW ( 1995. ) Retroviral‐mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth . EMBO J 14 : 1122 – 1128 . [DOI] [PMC free article] [PubMed] [Google Scholar]
- 194. Zorick TS , Syroid DE , Arroyo E , Scherer SS , Lemke G ( 1996. ) The transcription factors SCIP and Krox‐20 mark distinct stages and cell fates in Schwann cell differentiation . Mol Cell Neurosci 8 : 129 – 145 . [DOI] [PubMed] [Google Scholar]