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Pathogenic human L1-CAM mutations reduce the adhesion-dependent activation of EGFR
Human Molecular Genetics, 09/24/09
Nagaraj K et al. – The results indicate that the L1 syndrome–associated phenotype might involve the disruption of L1–CAM's functions at different levels. Either by reducing or abolishing L1–CAM protein expression, by interfering with L1–CAM's cell surface expression, by reducing L1–CAM's adhesive ability or by impeding further downstream adhesion–dependent signaling processes.
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