Pmp22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells

Neurobiology of Disease

Volumn 7, Issue 6, 2000, Pages 561-573

  Colby, Joshua ^a   Nicholson, Robert ^a   Dickson, Kathleen M ^a   Orfali, Wayel ^a   Naef, Roland ^a   Suter, Ueli ^a   Snipes, G Jackson ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN; MYELIN PROTEIN; VIRUS VECTOR;

ADENOVIRUS; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; MYELINATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RAT; REPORTER GENE; SCHWANN CELL; SCIATIC NERVE;

EID: 0034523142     PISSN: 09699961     EISSN: None     Source Type: Journal    
DOI: 10.1006/nbdi.2000.0323     Document Type: Article

References (56)

1. Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy
2. Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele
3. The role of the lectin calnexin in conformation independent binding to N-linked glycoproteins and quality control
4. Tst-1/Oct-6/SCIP regulates a unique step in peripheral myelination and is required for normal respiration
5. Post-transcriptional regulation of the peripheral myelin protein gene PMP22/gas3
6. Tissue culture observations relevant to the study of axon-Schwann cell interactions during peripheral nerve development and repair
7. DNA deletion associated with hereditary neuropathy with liability to pressure palsies
8. Transgenic animals with inducible, targeted gene expression in brain
9. Altered trafficking of mutant connexin32
10. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
11. Differentiation of axon-related Schwann cells in vitro. I. Ascorbic acid regulates basal lamina assembly and myelin formation
12. The thiol-dependent reductase ERp57 interacts specifically with N-glycosylated integral membrane proteins
13. Myelin acquisition in the central nervous system of the mouse revealed by an MBP-Lac Z transgene
14. Effective gene transfer of lacZ and P0 into Schwann cells of P0-deficient mice
15. A simplified system for generating recombinant adenoviruses
16. Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease
17. Myelin deficiencies in both the central and the peripheral nervous systems associated with SOX10 mutations
18. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
19. The POU factor Oct-6 and Schwann cell differentiation
20. Partial restoration of cAMP-stimulated CFTR chloride channel activity in DeltaF508 cells by deoxyspergualin
21. An endoplasmic reticulum storage disease causing congenital goiter with hypothyroidism
22. Pax3: A paired domain gene as a regulator in PNS myelination
23. Progesterone synthesis and myelin formation by Schwann cells
24. Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a
25. Immunosuppression by FK506 markedly prolongs expression of adenovirus-delivered transgene in skeletal muscles of adult dystrophic [mdx] mice
26. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies
27. Many facets of the peripheral myelin protein PMP22 in myelination and disease
28. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies
29. Structural and functional analysis of the ribosome landing pad of poliovirus type 2: In vivo translation studies
30. Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy
31. Temporal expression pattern of peripheral myelin protein 22 during in vivo and in vitro myelination
32. Common themes in myelin disease genes
33. Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment
34. Neurons promote the translocation of peripheral myelin protein 22 into myelin
35. Detection and processing of Peripheral Myelin Protein PMP22 in cultured Schwann cells
36. Molecular characterisation of the defective alpha 1-antitrypsin alleles PI Mwurzburg (Pro369Ser), Mheerlen (Pro369Leu), and Qolisbon (Thr68Ile)
37. Gene dosage as a mechanism for a common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A
38. Underexpression of messenger RNA for peripheral myelin protein 22 in hereditary neuropathy with liability to pressure palsies
39. The biology and pathobiology of Schwann cells
40. An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve
41. Viral vectors for modulating gene expression in neurons
42. Anatomy and cell biology of peripheral myelin protein-22
43. Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models
44. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
45. A leucineto-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse
46. Peripheral myelin protein 22: Facts and hypotheses
47. Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters
48. Trembler mouse carries a point mutation in a myelin gene
49. Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
50. 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
51. Ultrastructural PMP22 expression in inherited demyelinating neuropathies
52. Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins
53. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
54. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
55. Quality control in the secretory pathway: The role of calreticulin, calnexin and BiP in the retention of glycoproteins with C-terminal truncations