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Intracellular Transport, Assembly, And Degradation Of Wild-Type And Disease-Linked Mutant Gap Junction Proteins, Judy K. Vanslyke, Suzanne M. Deschênes, Linda S. Musil
Intracellular Transport, Assembly, And Degradation Of Wild-Type And Disease-Linked Mutant Gap Junction Proteins, Judy K. Vanslyke, Suzanne M. Deschênes, Linda S. Musil
Biology Faculty Publications
More than 130 different mutations in the gap junction integral plasma membrane protein connexin32 (Cx32) have been linked to the human peripheral neuropathy X-linked Charcot–Marie–Tooth disease (CMTX). How these various mutants are processed by the cell and the mechanism(s) by which they cause CMTX are unknown. To address these issues, we have studied the intracellular transport, assembly, and degradation of three CMTX-linked Cx32 mutants stably expressed in PC12 cells. Each mutant had a distinct fate: E208K Cx32 appeared to be retained in the endoplasmic reticulum (ER), whereas both the E186K and R142W mutants were transported to perinuclear compartments from which …