L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms

L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms

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...

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Bibliographic Details
Main Authors: Michael K.E. Schäfer, Yun-Chung Nam, Anice Moumen, Laura Keglowich, Elisabeth Bouché, Mercedes Küffner, Hans H. Bock, Fritz G. Rathjen, Cedric Raoul, Michael Frotscher
Format: Article
Language:English
Published: Elsevier 2010-10-01
Series:Neurobiology of Disease
Subjects:
L1CAM
Protein trafficking
Cell surface expression
ER export
ER stress
Axon growth
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996110001919

Internet

http://www.sciencedirect.com/science/article/pii/S0969996110001919

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