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Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane
Molecular Vision, 09/09/09
Isosomppi J et al. – WT CLRN1 is a glycoprotein localized to the plasma membrane in transfected BHK–21 cells. Mutant CLRN1 proteins are mislocalized. The authors suggest that part of the pathogenesis of USH3 may be associated with defective intracellular trafficking as well as decreased stability of mutant CLRN1 proteins.
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