Peripheral myelin protein 22 (PMP22) was initially described as a minor component of peripheral myelin. Mutations affecting the PMP22 gene cause demyelinating neuropathies, supporting a role for the protein in PNS myelination. Furthermore, PMP22 carries the L2/HNK-1 carbohydrate epitope suggesting a
Peripheral myelin protein-22 is expressed in CNS myelin
β Scribed by Rita De Gasperi; Miguel A. Gama Sosa; Zuzanna Naumowicz; Patrick R. Hof; Lucia Notterpek; Kenneth L. Davis; Joseph D. Buxbaum; Gregory A. Elder
- Book ID
- 111493626
- Publisher
- Versita
- Year
- 2010
- Tongue
- English
- Weight
- 187 KB
- Volume
- 1
- Category
- Article
- ISSN
- 2081-3856
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Mutations affecting the peripheral myelin protein 22 (PMP22) gene are associated with inherited motor and sensory neuropathies in mouse (Trembler and Trembler-J) and human (Charcot-Marie-Tooth disease type 1A and Dejerine-Sottas syndrome). Although genetic studies have established a critical role of
Peripheral myelin protein 22 (PMP22) is a small, hydrophobic glycoprotein, which is most prominently expressed by Schwann cells as a component of compact myelin of the peripheral nervous system (PNS). Recent progress in molecular genetics revealed that mutations affecting the PMP22 gene including du
## Abstract Peripheral myelin protein 22 (PMP22) is a doseβsensitive, diseaseβassociated protein primarily expressed in myelinating Schwann cells. Either reduction or overproduction of PMP22 can result in hereditary neuropathy, suggesting a requirement for correct protein expression for peripheral
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