ArticleProceedings of the National Academy of Sciences of the United States of America1993
Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 85 citations in OpenAlex.
- Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.Amino acids · 2026Review
- On the synergy between myelin proteins P0, MBP, and P2 in peripheral nerve major dense line formation.The FEBS journal · 2025Article
- Molecular Characterization of Nodose Ganglia Development Reveals a Novel Population of Phox2b+ Glial Progenitors in Mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- The intrinsically disordered protein glue of the myelin major dense line: Linking AlphaFold2 predictions to experimental data.Biochemistry and biophysics reports · 2023Article
- Humans: the ultimate animal models.Journal of neurology, neurosurgery, and psychiatry · 2020Review
- Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail.PloS one · 2019Article
- MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.American journal of human genetics · 2018Article
- SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.Human molecular genetics · 2016Article
- Glutamate signals through mGluR2 to control Schwann cell differentiation and proliferation.Scientific reports · 2016Article
- Article
- A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.PloS one · 2010Article
- Glial cells: old cells with new twists.Acta histochemica · 2008Review
- Analysis of Fcgamma receptor haplotypes in rheumatoid arthritis: FCGR3A remains a major susceptibility gene at this locus, with an additional contribution from FCGR3B.Arthritis research & therapy · 2006Article
- Evidence for non-random distribution of Fcgamma receptor genotype combinations.Immunogenetics · 2003Article
- Genomic organization of classical human low-affinity Fcgamma receptor genes.Genes and immunity · 2002Article
- Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation.Journal of neurology, neurosurgery, and psychiatry · 2000Article
- The IgG Fc receptor, FcgammaRIIB, is a target for deregulation by chromosomal translocation in malignant lymphoma.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.Journal of neurology, neurosurgery, and psychiatry · 1999Article
- Animal models for inherited peripheral neuropathies.Journal of anatomy · 1997Review
- High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.American journal of human genetics · 1996Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant of Charcot-Marie-Tooth disease (CMT), whose gene is type 1B (CMT1B), has slow nerve conduction with demyelinated Schwann cells. In this study the abundant peripheral myelin protein zero (MPZ) gene, MPZ, was mapped 130 kb centromeric to the Fc receptor immunoglobulin gene cluster in band 1q22, and a major MPZ point mutation was found to cosegregate with CMT1B in one large CMT1B family. The MPZ point mutation in 18 of 18 related CMT1B pedigree 1 patients converts a positively charged lysine in codon 96 to a negatively charged glutamate. The same MPZ locus cosegregates with the CMT1B disease gene in a second CMT1B family [total multipoint logarithm of odds (lod) = 11.4 at theta = 0.00] with a splice junction mutation. Both mutations occur in MPZ protein regions otherwise conserved identically in human, rat, and cow since these species diverged 100 million years ago. MPZ protein, expressed exclusively in myelinated peripheral nerve Schwann cells, constitutes > 50% of myelin protein. These mutations are anticipated to disrupt homophilic MPZ binding and result in CMT1B peripheral nerve demyelination.
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