Associated Papers
Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease.
Ptak CP et al.
Brain : a Journal of Neurology, 2023
Proteostasis plays an important role in demyelinating Charcot Marie Tooth disease.
Libberecht K et al.
Biochemical Pharmacology, 2023
Treatment with IFB-088 Improves Neuropathy in CMT1A and CMT1B Mice.
Bai Y et al.
Molecular Neurobiology, 2022
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
Aminosalicylic acid reduces ER stress and Schwann cell death induced by MPZ mutations.
Chang EH et al.
International Journal of Molecular Medicine, 2019
Schwann cells ER-associated degradation contributes to myelin maintenance in adult nerves and limits demyelination in CMT1B mice.
Volpi VG et al.
Plos Genetics, 2019
Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.
Bai Y et al.
Annals of Clinical and Translational Neurology, 2018
Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.
Sanmaneechai O et al.
Brain : a Journal of Neurology, 2015
Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.
Agrahari A et al.
Journal of Theoretical Biology, 2015
P0S63del impedes the arrival of wild-type P0 glycoprotein to myelin in CMT1B mice.
Fratta P et al.
Human Molecular Genetics, 2011
P0 (protein zero) mutation S34C underlies instability of internodal myelin in S63C mice.
Avila RL et al.
The Journal of Biological Chemistry, 2010
Foot pad skin biopsy in mouse models of hereditary neuropathy.
Dacci P et al.
Glia, 2010
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.
Mandich P et al.
European Journal of Human Genetics : Ejhg, 2009
Animal models of inherited neuropathies.
Meyer Zu Hörste G et al.
Current Opinion in Neurology, 2006
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice.
Wrabetz L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
Matsuyama W et al.
Acta Neuropathologica, 2002
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
Hayasaka K et al.
Nature Genetics, 1993
[5 Cases of Charcot-Marie disease with electromyography examinations].
DECHAUME et al.
Lyon Medical, 1957