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Giant axonal neuropathy: An inborn error of organization of intermediate filaments
Author(s) -
Pena Sergio D. J.
Publication year - 1982
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880050215
Subject(s) - vimentin , protein subunit , intermediate filament , isoelectric point , fibroblast , biology , chemistry , microbiology and biotechnology , anatomy , pathology , genetics , medicine , biochemistry , cytoskeleton , gene , immunohistochemistry , cell culture , cell , enzyme
Light microscopic examination of cultured skin fibroblasts from three patients with giant axonal neuropathy (GAN) revealed large aggregates of intermediate filaments (IF). However, electrophoretic analysis of these cells showed normal amounts of vimentin, the fibroblast IF subunit protein. The isoelectric point and peptide mapping of vimentin were identical to controls. Moreover, vimentin was synthesized and phosphorylated at a normal rate. These findings demonstrate that GAN is an inborn error of the organization of IF and suggest that the basic genetic defect in GAN does not involve primarily the IF subunit proteins.