Article
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.
Annals of neurology - 1 Mar 2003
Shy Michael E, Hobson Grace, Jain Manisha, Boespflug-Tanguy Odile, Garbern James, Sperle Karen, Li Wen, Gow Alex, Rodriguez Diana, Bertini Enrico, Mancias Pedro, Krajewski Karen, Lewis Richard, Kamholz John
Abstract excerpt
Proteolipid protein (PLP1) and its alternatively spliced isoform, DM20, are the major myelin proteins in the CNS, but are also expressed in the PNS. The proteins have an identical sequence except for 35 amino acids in PLP1 (the PLP1-specific domain) not present in DM20. Mutations of PLP1/DM20 cause Pelizaeus-Merzbacher Disease (PMD), a leukodystrophy, and in some instances, a peripheral neuropathy. To identify...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- COS Cells
- Child
- Chlorocebus aethiops
- Cohort Studies
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myelin Proteolipid Protein