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| Verfasst von: | Niemann, Stephan [VerfasserIn]  |
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| | Sereda, Michael W. [VerfasserIn] |
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| | Roßner, Moritz [VerfasserIn] |
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| | Stewart, Helen [VerfasserIn] |
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| | Suter, Ueli [VerfasserIn] |
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| | Meinck, Hans-Michael [VerfasserIn] |
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| | Griffiths, Ian R. [VerfasserIn] |
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| | Nave, Klaus-Armin [VerfasserIn] |
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| Titel: | The “CMT rat” |
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| Titelzusatz: | peripheral neuropathy and dysmyelination caused by transgenic overexpression of PMP22 |
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| Verf.angabe: | Stephan Niemann, Michael W. Sereda, Moritz Rossner, Helen Stewart, Ueli Suter, Hans-Michael Meinck, Ian R. Griffiths, and Klaus-Armin Nave |
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| Jahr: | 1999 |
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| Umfang: | 8 S. |
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| Fussnoten: | Elektronische Reproduktion der Druck-Ausgabe ; Gesehen am 04.03.2021 |
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| Titel Quelle: | Enthalten in: New York Academy of SciencesAnnals of the New York Academy of Sciences |
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| Ort Quelle: | Oxford [u.a.] : Wiley-Blackwell, 1877 |
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| Jahr Quelle: | 1999 |
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| Band/Heft Quelle: | 883(1999), Seite 254-261 |
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| ISSN Quelle: | 1749-6632 |
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| Abstract: | We have generated a transgenic rat model of Charcot-Marie-Tooth disease type 1A (CMT1A) providing formal proof that this neuropathy can be caused by increased expression of peripheral myelin protein-22 (PMP22). Heterozygous PMP22-transgenic rats develop muscle weakness and gait abnormalities as well as reduced nerve conduction velocities and EMG abnormalities, which closely resemble recordings in patients with CMT1A. Dys- and demyelination, Schwann cell hypertrophy, and “onion bulb” formation are also similar to findings in humans. When bred to homozygosity, transgenic rats completely fail to elaborate myelin, but all myelin-forming Schwann cells segregate with axons in the normal one-to-one ratio. Although arrested at this “promyelin” stage, differentiation proceeds in homozygous rats at the molecular level, as demonstrated by high-level expression of myelin structural genes. Intracellular trafficking of the wild-type protein is not visibly impaired, even when strongly overexpressed, suggesting that PMP22 blocks myelin assembly in a late Golgi/cell membrane compartment of the affected Schwann cell. |
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| DOI: | doi:10.1111/j.1749-6632.1999.tb08587.x |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext: https://doi.org/10.1111/j.1749-6632.1999.tb08587.x |
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| | Volltext: https://nyaspubs.onlinelibrary.wiley.com/doi/abs/10.1111/j.1749-6632.1999.tb08587.x |
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| | DOI: https://doi.org/10.1111/j.1749-6632.1999.tb08587.x |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1750440806 |
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| Verknüpfungen: | → Zeitschrift |
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