Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

Nature Genetics
Rudolf MartiniMelitta Schachner

Abstract

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 previously reported that mice homozygous for a null mutation in P0 have severely hypomyelinated nerves ten weeks after birth. Here we show hypomyelination already exists at day four with subsequent demyelination and impaired nerve conduction. Furthermore, heterozygous mutants show normal myelination, but develop progressive demyelination after four months of age. Thus, the pathology of homo- and heterozygous P0 mutants resembles that of the severely affected Déjérine-Sottas and the more mildly affected Charcot-Marie-Tooth type 1B patients, respectively.

References

Oct 1, 1990·Journal of Neuroscience Research·L S MitchellK McPhilemy
May 1, 1986·Journal of Neurochemistry·Y UchidaK Nomura
Mar 1, 1985·Brain : a Journal of Neurology·R E Clifford-JonesD N Landon
Jan 1, 1984·Brain & Development·N TachiR Minami
Nov 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·Y SuR V Lebo
Oct 1, 1994·Journal of Medical Genetics·E NelisC Van Broeckhoven
Mar 1, 1995·The European Journal of Neuroscience·M FruttigerR Martini
Aug 16, 1993·Biochemical and Biophysical Research Communications·K HayasakaY Murai
Sep 1, 1993·Human Molecular Genetics·K HayasakaV V Ionasescu
Aug 15, 1994·Journal of Neuroscience Research·K A Nave

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Citations

May 13, 1999·Annals of Neurology·P MandichA Schenone
Nov 30, 1999·Annals of Neurology·V Planté-BordeneuveG Said
Oct 1, 1996·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·I R Griffiths
Feb 6, 1998·Human Mutation·E Sorour, M Upadhyaya
Oct 29, 2002·Muscle & Nerve·Violaine Plante-Bordeneuve, Gérard Said
Mar 27, 2001·Muscle & Nerve·R Martini
Feb 16, 2000·Biochemical and Biophysical Research Communications·M XuZ J Zhao
Jun 30, 2000·Cell Biology International·G J Snipes, W Orfali
Dec 8, 2004·Der Nervenarzt·M MäurerR Martini
May 13, 2010·Journal of Neurology·Yi-Chung LeeBing-Wen Soong
Feb 18, 2011·Current Neurology and Neuroscience Reports·Senda Ajroud-DrissTeepu Siddique
Feb 10, 1998·Journal of the Neurological Sciences·N TachiK Sasaki
Dec 3, 1999·Journal of the Neurological Sciences·A OhnishiM Ikeda
Nov 3, 2001·Brain Research. Brain Research Reviews·P Young, U Suter
Jul 31, 1998·Trends in Neurosciences·C O Hanemann, H W Müller
Nov 26, 2002·Trends in Genetics : TIG·Yosuke Tanaka, Nobutaka Hirokawa
May 25, 1999·Progress in Neurobiology·R Probstmeier, P Pesheva
Feb 5, 2000·Progress in Neurobiology·R C MelcangiL Martini
Mar 23, 2000·Progress in Neurobiology·B GarbayC Cassagne
Feb 25, 2000·Neuroscience Letters·Y Sato, T Endo
Sep 12, 2002·Biochimica Et Biophysica Acta·Takashi Angata, Els Brinkman-Van der Linden
Nov 2, 1999·Neuromuscular Disorders : NMD·A LaguenyA Vandenberghe
Jul 3, 2003·Molecular and Cellular Neurosciences·Mathias MäurerReinhard Kiefer
Dec 3, 1998·Genetic Analysis : Biomolecular Engineering·A B EkiciB Rautenstrauss
Aug 3, 2007·Nature Clinical Practice. Neurology·Klaus-Armin NaveHannelore Ehrenreich
Nov 1, 1995·Nature Genetics·S S Scherer, P F Chance
Jan 7, 1998·Journal of Anatomy·R Martini
Jul 2, 2002·Journal of Anatomy·Mathias MäurerRudolf Martini
Sep 1, 1996·The Journal of Cell Biology·M H Wong, M T Filbin
May 4, 2012·British Medical Bulletin·Robert FledrichMichael W Sereda
May 19, 2009·Brain : a Journal of Neurology·Istvan KatonaJun Li
Dec 21, 2010·Brain : a Journal of Neurology·Mihai MoldovanChristian Krarup

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