The Anatomy and Cell Biology of Peripheral Myelin Protein-22

The gain of function phenotypes exhibited by the heterozygous Tr, Tr-J, and CMT1A mutations indicate that these mutations interfere with more than the function of a single PMP22 allele. The identification of proteins that interact with PMP22 and that are sensitive both to stoichiometry and the effec...

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Published inAnnals of the New York Academy of Sciences Vol. 883; no. 1; p. 143
Main Authors Snipes, G Jackson, Orfali, Wayel, Fraser, Andrew, Dickson, Kathleen, Colby, Joshua
Format Journal Article
LanguageEnglish
Published United States 01.10.1999
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Summary:The gain of function phenotypes exhibited by the heterozygous Tr, Tr-J, and CMT1A mutations indicate that these mutations interfere with more than the function of a single PMP22 allele. The identification of proteins that interact with PMP22 and that are sensitive both to stoichiometry and the effects of the mutations could provide important leads to a unified hypothesis to explain the riddle of the PMP22-related neuropathies.
ISSN:1749-6632
DOI:10.1111/j.1749-6632.1999.tb08577.x