Article
Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene.
Nature - 27 Aug 1992
Schneider A, Montague P, Griffiths I, Fanarraga M, Kennedy P, Brophy P, Nave K A
Abstract excerpt
Proteolipid protein (PLP; M(r) 30,000) is a highly conserved major polytopic membrane protein in myelin but its cellular function remains obscure. Neurological mutant mice can often provide model systems for human genetic disorders. Mutations of the X-chromosome-linked PLP gene are lethal, identified first in the jimpy mouse and subsequently in patients with Pelizaeus-Merzbacher disease. The unexplained phenotype...
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