Cellular mechanisms of connexin32 mutations associated with CNS manifestations

Journal of Neuroscience Research

Volumn 68, Issue 5, 2002, Pages 522-534

  Kleopa, Kleopas A ^a   Yum, Sabrina W ^b   Scherer, Steven S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b ST CHRISTOPHER'S HOSPITAL FOR CHILDREN   (United States)

Author keywords

CMTX; Connexin45; Gap junctions; Oligodendrocytes; Protein trafficking

Indexed keywords

CONNEXIN 32; CONNEXIN 45; GAP JUNCTION PROTEIN;

ANIMAL CELL; ARTICLE; CELL INTERACTION; CELL MEMBRANE; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GOLGI COMPLEX; HELA CELL; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOCYTOCHEMISTRY; NONHUMAN; OLIGODENDROGLIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHWANN CELL;

CELL COMMUNICATION; CHARCOT-MARIE-TOOTH DISEASE; CONNEXINS; CYSTEINE ENDOPEPTIDASES; ENDOPLASMIC RETICULUM; GAP JUNCTIONS; GENE EXPRESSION; GOLGI APPARATUS; HELA CELLS; HUMANS; LYSOSOMES; MULTIENZYME COMPLEXES; MUTAGENESIS, SITE-DIRECTED; OLIGODENDROGLIA; PHENOTYPE; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN TRANSPORT; SCHWANN CELLS;

EID: 0036605376     PISSN: 03604012     EISSN: None     Source Type: Journal    
DOI: 10.1002/jnr.10255     Document Type: Article

References (59)

1. On the molecular architecture of myelinated fibers
2. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin32 gene
3. CNS abnormalities in a family with a connexin32 mutation and peripheral neuropathy
4. Connexin mutations in X-linked Charcot-Marie-Tooth disease
5. Connexin32 and X-linked Charcot-Marie-Tooth disease
6. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
7. Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve
8. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease
9. Connections with connexins: The molecular basis of direct intercellular signaling
10. Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations
11. PMP22 carrying the Trembler or Trembler-J mutation is intracellularly retained in myelinating Schwann cells
12. Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22
13. The gap junction family: Structure, function and chemistry
14. Oligodendrocytes express gap junction proteins connexin32 and connexin45
15. Altered trafficking of mutant connexin32
16. Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells
17. Connexin-specific distribution within gap junctions revealed in living cells
18. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease
19. Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport
20. Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease
21. Maturation-dependent apoptotic cell death of oligodendroglial cells in myelin-deficient rats
22. Aggresomes: A cellular response to misfolded proteins
23. An impaired routing of wild-type acquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus
24. Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: Disorders of protein trafficking and the role of ER molecular chaperones
25. Assembly of CNS myelin in the absence of proteolipid protein
26. Coexpression of connexin45 and -32 in oligodendrocytes of rat brain
27. Degradation of connexin43 gap junctions involves both the proteasome and the lysosome
28. Myelin and myelination
29. Connexin32 in oligodendrocytes and association with myelinated fibers in mouse and rat brain
30. A unique mutation in connexin32 associated with severe, early onset CMTX in a heterozygous female
31. Glial growth factors are alternatively spliced erbB2 ligands expressed in the nervous system
32. Central nervous system involvement in a novel connexin 32 mutation affecting identical twins
33. Analysis of gap junctions assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease
34. Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant Connexin 32 (GJBI)
35. Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occures after exit from the ER
36. Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies
37. Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies
38. Developmental defects of myelin formation: From X-linked mutations to human dysmyelinating diseases
39. Efficient neurophysiological selection of X-linked Charcot-Marie-Tooth families
40. PMP22 accumulation in aggresomes: Implications for CMT1A pathology
41. Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease
42. Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: Functional defects and dominant negative effects
43. Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations
44. Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene
45. Schwann cells stimulated to proliferate in the absence of neurons retain full functional capability
46. A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes
47. Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons
48. Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: Loss of function and altered gating properties
49. Arrest of proteolipid protein through the Golgi apparatus in jimpy brain
50. Molecular genetics of demyelination: New wrinkles on an old membrane
51. Connexin32 is a myelin-related protein in the PNS and CNS
52. Programmed cell death in the dysmyelinating mutants
53. The gap junction proteins β1-connexin (connexin-32) and β2-connexin (connexin-26) can form heteromeric hemichannels
54. Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins
55. Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22
56. Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins
57. Visualization of gap junction mobility in living cells
58. Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression