Literature DB >> 16543539

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.

H M E Bienfait1, C G Faber, F Baas, A A W M Gabreëls-Festen, J H T M Koelman, J E Hoogendijk, J J Verschuuren, J H J Wokke, M de Visser.   

Abstract

A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer.

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Year:  2006        PMID： 16543539      PMCID： PMC2077493          DOI： 10.1136/jnnp.2005.073437

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  9 in total

1.  SWISS-MODEL: An automated protein homology-modeling server.

Authors:  Torsten Schwede; Jürgen Kopp; Nicolas Guex; Manuel C Peitsch
Journal:  Nucleic Acids Res       Date:  2003-07-01       Impact factor: 16.971

2.  Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.

Authors:  F Chapon; P Latour; P Diraison; S Schaeffer; A Vandenberghe
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-06       Impact factor: 10.154

3.  The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.

Authors:  P De Jonghe; V Timmerman; C Ceuterick; E Nelis; E De Vriendt; A Löfgren; A Vercruyssen; C Verellen; L Van Maldergem; J J Martin; C Van Broeckhoven
Journal:  Brain       Date:  1999-02       Impact factor: 13.501

4.  Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.

Authors:  Cornelius F Boerkoel; Hiroshi Takashima; Carlos A Garcia; Richard K Olney; John Johnson; Katherine Berry; Paul Russo; Shelley Kennedy; Ahmad S Teebi; Mena Scavina; Lowell L Williams; Pedro Mancias; Ian J Butler; Karen Krajewski; Michael Shy; James R Lupski
Journal:  Ann Neurol       Date:  2002-02       Impact factor: 10.422

Review 5.  The molecular genetics of myelination: an update.

Authors:  G Lemke
Journal:  Glia       Date:  1993-04       Impact factor: 7.452

6.  New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1.

Authors:  M Himoro; H Yoshikawa; T Matsui; Y Mitsui; M Takahashi; M Kaido; T Nishimura; Y Sawaishi; G Takada; K Hayasaka
Journal:  Biochem Mol Biol Int       Date:  1993-09

7.  Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

Authors:  M Auer-Grumbach; S Strasser-Fuchs; T Robl; C Windpassinger; K Wagner
Journal:  Neurology       Date:  2003-11-25       Impact factor: 9.910

Review 8.  Phenotypic clustering in MPZ mutations.

Authors:  Michael E Shy; Agnes Jáni; Karen Krajewski; Marina Grandis; Richard A Lewis; Jun Li; Rosemary R Shy; Janne Balsamo; Jack Lilien; James Y Garbern; John Kamholz
Journal:  Brain       Date:  2004-01-07       Impact factor: 13.501

9.  Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.

Authors:  K Silander; P Meretoja; V Juvonen; J Ignatius; H Pihko; A Saarinen; T Wallden; E Herrgård; P Aula; M L Savontaus
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878
  9 in total
  4 in total

1.  Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.

Authors:  Ilaria Callegari; C Gemelli; A Geroldi; F Veneri; P Mandich; M D'Antonio; D Pareyson; M E Shy; A Schenone; V Prada; M Grandis
Journal:  J Neurol       Date:  2019-07-05       Impact factor: 4.849

2.  Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Authors:  Matilde Laurà; Micaela Milani; Michela Morbin; Maurizio Moggio; Michela Ripolone; Stefano Jann; Vidmer Scaioli; Franco Taroni; Davide Pareyson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2007-11       Impact factor: 10.154

Review 3.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

4.  Metabolic Interaction Between Schwann Cells and Axons Under Physiological and Disease Conditions.

Authors:  Filipa Bouçanova; Roman Chrast
Journal:  Front Cell Neurosci       Date:  2020-05-29       Impact factor: 5.505
  4 in total

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