Article
L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms.
Neurobiology of disease - 1 Oct 2010
Schäfer Michael K E, Nam Yun-Chung, Moumen Anice, Keglowich Laura, Bouché Elisabeth, Küffner Mercedes, Bock Hans H, Rathjen Fritz G, Raoul Cedric, Frotscher Michael
Abstract excerpt
Mutations in the human L1CAM gene cause neurodevelopmental disorders collectively referred to as L1 syndrome. Here, we investigated cellular pathomechanisms underlying two L1 syndrome mutations, R184Q and W1036L. We demonstrate that these mutations cause partial endoplasmic reticulum (ER) retention of L1, reduce L1 cell surface expression, but do not induce ER stress in neuronal NSC-34 cells. We provide evidence...
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