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The Anatomy and Cell Biology of Peripheral Myelin Protein‐22
Author(s) -
SNIPES G. JACKSON,
ORFALI WAYEL,
FRASER ANDREW,
DICKSON KATHLEEN,
COLBY JOSHUA
Publication year - 1999
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1999.tb08577.x
Subject(s) - peripheral , biology , neuroscience , myelin sheath , myelin , anatomy , microbiology and biotechnology , computational biology , medicine , central nervous system
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.