Display options
Share it on

Ann N Y Acad Sci. 1999 Oct;883(1):143-151. doi: 10.1111/j.1749-6632.1999.tb08577.x.

The Anatomy and Cell Biology of Peripheral Myelin Protein-22.

Annals of the New York Academy of Sciences

G Jackson Snipes, Wayel Orfali, Andrew Fraser, Kathleen Dickson, Joshua Colby

Affiliations

  1. Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec H3A 2B4, CanadaDepartment of Pathology, McGill University, Montreal, Quebec H3A 2B4, CanadaDepartment of Anatomy and Cell Biology, McGill University, Montreal, Quebec H3A 2B4, Canada.

PMID: 29086928 DOI: 10.1111/j.1749-6632.1999.tb08577.x

Abstract

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.

Publication Types