The DOI matches its Crossref record; 176 of the 176 references it cites were found in a registry or an index.
The PMP22 Gene and Its Related Diseases
Open accessAbstract
Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since alterations of PMP22 levels by mutations of the PMP22 gene are responsible for >50 % of all patients with inherited peripheral neuropathies, including Charcot–Marie–Tooth type-1A (CMT1A) with trisomy of PMP22, hereditary neuropathy with liability to pressure palsies (HNPP) with heterozygous deletion of PMP22, and CMT1E with point mutations of PMP22. While overexpression and point-mutations of the PMP22 gene may produce gain-of-function phenotypes, deletion of PMP22 results in a loss-of-function phenotype that reveals the normal physiological functions of the PMP22 protein. In this article, we will review the basic genetics, biochemistry and molecular structure of PMP22, followed by discussion of the current understanding of pathogenic mechanisms involving in the inherited neuropathies with mutations in PMP22 gene.
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Cites
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Lipid nanoparticle topology regulates endosomal escape and delivery of RNA to the cytoplasm
Zheng, L., Bandara, S. R., Tan, Z., & Leal, C. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2301067120 · Cited by 259
Rousseaux, M. W. C., Vázquez-Vélez, G. E., Al-Ramahi, I., Jeong, H.-H., Bajić, A., Revelli, J.-P., Ye, H., Phan, E. T., Deger, J. M., Perez, A. M., et al. (2018) · The Journal of Neuroscience · doi:10.1523/jneurosci.0254-18.2018 · Cited by 61
Disrupting the transmembrane domain interface between PMP22 and MPZ causes peripheral neuropathy
(2024) · doi:10.1016/j.isci.2024.110989 · Cited by 15
Moss, K. R., Arowolo, M. A., Gutierrez, D. R., & Höke, A. (2026) · Glia · doi:10.1002/glia.70124 · Cited by 2
Metadata
- Authors
- Li, J., Parker, B., Martyn, C., Natarajan, C., & Guo, J.
- Venue
- Molecular Neurobiology
- Published
- 2012-12-07
- Volume
- 47
- Issue
- 2
- Pages
- 673-698
- ISSN
- 0893-7648 (ISSN-L)
- 1559-1182
- OpenAlex
- W2020099839
- Cited by
- 280
- References
- 176
- FWCI
- 5.41
- Type
- journal article
- Language
- en
- Open access
- green
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