The Anatomy and Cell Biology of Peripheral Myelin Protein-22

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

doi:10.1111/j.1749-6632.1999.tb08577.x

The Anatomy and Cell Biology of Peripheral Myelin Protein-22

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

Authors

G Jackson Snipes¹, Wayel Orfali¹, Andrew Fraser¹, Kathleen Dickson¹, Joshua Colby¹

Affiliation

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.