Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice.
The dosage of the myelin gene and mutant forms of the protein can affect the CNS and PNS. Pelizaeus-Merzbacher disease (PMD) is a myelin disorder of the CNS that arises from both mutational mechanisms. Investigating the molecular basis of PMD in patients and animal models is furthering our understanding of the disease, dosage sensitivity and proteolipid protein function during myelinogenesis.
Woodward
K
K
Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London, UK WC1N 1EH. kwoodwar@hgmp.mrc.ac.uk
Malcolm
S
S
D000818:Animals; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D051379:Mice; D009154:Mutation; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D009410:Nerve Degeneration / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics; D014960:X Chromosome / Q000235:genetics
D018991:Myelin Proteolipid Protein