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Disruption of the mouse L1 gene leads to malformations of the nervous system
The adhesion molecule L1 is a member of the immunoglobulin super-family1. L1 is involved in various recognition processes in the CMS and PNS2–3, and binding to L1 can activate signal transductionExpand
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Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice
Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation. Defects at the PMP22 locus are associated with peripheral neuropathies suchExpand
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Interactions between Schwann cells and macrophages in injury and inherited demyelinating disease
In this article we first discuss the factors that regulate macrophage recruitment, activation, and myelin phagocytosis during Wallerian degeneration and some of the factors involved in theExpand
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Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
We have used homologous recombination in embryonic stem cells to generate mice carrying a mutation in the gene encoding P0, an immunoglobulin-related recognition molecule and the major protein ofExpand
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Structural Abnormalities and Deficient Maintenance of Peripheral Nerve Myelin in Mice Lacking the Gap Junction Protein Connexin 32
Mutations affecting the connexin 32 (Cx32) gene are associated with the X-linked form of the hereditary peripheral neuropathy Charcot–Marie–Tooth disease (CMTX). We show that Cx32-deficient miceExpand
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Protein zero (P0)–deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies
Mutations in the human gene for the myelin recognition molecule protein zero (P0) give rise to severe and progressive forms of dominantly inherited peripheral neuropathies. We have previouslyExpand
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Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is caused by recessive mutations of the IGHMBP2 gene. The role of IGHMBP2 (immunoglobulin mu-binding protein 2) in the pathomechanismExpand
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Impaired Differentiation of Schwann Cells in Transgenic Mice with Increased PMP22 Gene Dosage
An intrachromosomal duplication containing the PMP22gene is associated with the human hereditary peripheral neuropathy Charcot-Marie-Tooth disease type 1A, and PMP22 overexpression as a consequenceExpand
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Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance.
The adhesive cell surface molecule P(0) is the most abundant glycoprotein in peripheral nerve myelin and fulfills pivotal functions during myelin formation and maintenance. Mutations in theExpand
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The effect of myelinating Schwann cells on axons.
  • R. Martini
  • Biology, Medicine
  • Muscle & nerve
  • 1 April 2001
Myelinating Schwann cells control the number of neurofilaments and elevate the phosphorylation state of neurofilaments in the axon, eventually leading to the typical large axon caliber. Conversely,Expand
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