ArticleThe Journal of cell biology2004
Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.
Article in The Journal of cell biology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches.International journal of molecular sciences · 2024Review
- MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth disease.Molecular genetics & genomic medicine · 2022Article
- Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies.Brain sciences · 2021Review
- Therapeutic Development in Charcot Marie Tooth Type 1 Disease.International journal of molecular sciences · 2021Review
- Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.The Journal of clinical investigation · 2013Article
- CFTR-deficient pigs display peripheral nervous system defects at birth.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- ENU mutagenesis screen to establish motor phenotypes in wild-type mice and modifiers of a pre-existing motor phenotype in tau mutant mice.Journal of biomedicine & biotechnology · 2011Review
- Axonal and periaxonal swelling precede peripheral neurodegeneration in KCC3 knockout mice.Neurobiology of disease · 2007Article
- Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha.The Journal of cell biology · 2007Article
- Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2006Article
- Proteomics of bovine myelin sheath: characterization of a truncated form of P0 by MALDI-TOF/TOF mass spectrometry.Journal of the American Society for Mass Spectrometry · 2006Article
- [The role of the immune system in hereditary demyelinating neuropathies].Der Nervenarzt · 2005Review
- From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.Journal of tissue engineeringReview
Corrections and comments
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Authors and funding
9 authors.
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Abstract
Mutations in the gene of the peripheral myelin protein zero (P0) give rise to the peripheral neuropathies Charcot-Marie-Tooth type 1B disease (CMT1B), Déjérine-Sottas syndrome, and congenital hypomyelinating neuropathy. To investigate the pathomechanisms of a specific point mutation in the P0 gene, we generated two independent transgenic mouse lines expressing the pathogenic CMT1B missense mutation Ile106Leu (P0sub) under the control of the P0 promoter on a wild-type background. Both P0sub-transgenic mouse lines showed shivering and ultrastructural abnormalities including retarded myelination, onion bulb formation, and dysmyelination seen as aberrantly folded myelin sheaths and tomacula in all nerve fibers. Functionally, the mutation leads to dispersed compound muscle action potentials and severely reduced conduction velocities. Our observations support the view that the Ile106Leu mutation acts by a dominant-negative gain of function and that the P0sub-transgenic mouse represents an animal model for a severe, tomaculous form of CMT1B.
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