Effects of PMP22 duplication and deletions on the axonal cytoskeleton

Annals of Neurology

Volumn 45, Issue 1, 1999, Pages 16-24

  Sahenk, Zarife ^a   Chen, Lei ^a   Mendell, Jerry R ^a  

^a OHIO STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CHROMOSOME 17P; CONTROLLED STUDY; CYTOSKELETON; GENE DELETION; GENE DUPLICATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN TISSUE; MOUSE; MYELINATION; NERVE FIBER DEGENERATION; NERVE GRAFT; NERVE SPROUTING; NEUROFILAMENT; NONHUMAN; NUDE MOUSE; PRIORITY JOURNAL; SCHWANN CELL; SCIATIC NERVE; SURAL NERVE; XENOGRAFT;

ANIMALS; AXONS; CHARCOT-MARIE-TOOTH DISEASE; CYTOSKELETON; GENE DELETION; GENE DUPLICATION; MICE; MICE, NUDE; MICROSCOPY, ELECTRON; MYELIN PROTEINS; MYELIN SHEATH; NEUROFILAMENT PROTEINS; SCHWANN CELLS; SCIATIC NERVE; TRANSPLANTATION, HETEROLOGOUS;

EID: 0032948050     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199901)45:1<16::AID-ART5>3.0.CO;2-F     Document Type: Article

References (17)

1. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232
2. Raeymaekers P, Timmerman V, Nelis E, et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN collaborative research group. Neuromusc Disord 1991;1:93-97
3. Raeymaekers P, Timmerman V, Nelis E, et al. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN collaborative research group. J Med Genet 1992;29:5-11
4. Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101
5. Marrosu MG, Vaccargiu S, Marrosu G, et al. A novel point mutation in the peripheral myelin protein 22 (PMP22) gene associated with Charcot-Marie-Tooth disease type 1A. Neurology 1997;48:489-493
6. Valentijn LJ, Baas F, Wolterman RA, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;2:288-291
7. Dyck PJ. Histologic measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophic neuropathy and congenital sensory neuropathy. Mayo Clin Proc 1966;41:214-217
8. de Waegh SM, Brady St. Local control of axonal properties by Schwann cells: neurofilaments and axonal transport in homologous and heterologous nerve grafts. J Neurosci Res 1991;30: 210-212
9. de Waegh SM, Lee VM, Brady ST. Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 1992;68:451-463
10. Sahenk Z, Chen L. Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts. J Neurosci Res 1998;51:174-184
11. Dyck PJ, Lais AC, Offord KP. The nature of myelinated nerve fiber degeneration in dominantly inherited hypertrophic neuropathy. Mayo Clin Proc 1974;49:34-39
12. Brimijoin S, Capek P, Dyck PJ. Axonal transport of dopamine-hydroxylase by human sural nerves in vitro. Science 1973;180: 1295-1297
13. Sahenk Z, Chen L, Freimer M. A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. Neurology 1998;51:702-707
14. Adlkofer K, Martini R, Aguzzi A, et al. Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice. Nat Genet 1995;11:274-280
15. Dyck PJ, Nukada H, Lais AS Karnes JL. Permanent axotomy: A model of chronic neuronal degeneration preceded by axonal atrophy, myelin remodeling and degeneration. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R, eds. Peripheral neuropathy. Philadelphia: WB Saunders, 1984:666-690
16. Yin X, Crawford TO, Griffin JW, et al. Myelin associated glycoprotein is a myelin signal that modulates the caliber of myelinated axon. J Neurosci 1998;18:1953-1962
17. Friedman HC, Jelsma TN, Bray GM, Aguayo AJ. A distinct pattern of trophic factor expression in myelin-deficient nerves of Trembler mice: implications for trophic support by Schwann cells. J Neurosci 1996;16:5344-5350