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Nature Medicine 13, 784 - 786 (2007)
doi:10.1038/nm0707-784
Phosphoinositides' link to neurodegeneration
Laura Volpicelli-Daley1 & Pietro De Camilli1
- Laura Volpicelli-Daley and Pietro De Camilli are in the Department of Cell Biology, Howard Hughes Medical Institute and Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University School of Medicine, Boyer Center for Molecular Medicine, 295 Congress Avenue, New Haven, Connecticut 06510, USA. e-mail: pietro.decamilli@yale.edu
Abstract
Mutations in the phosphoinositide metabolism gene FIG4 disrupt the endosomal pathway, leading to neurodegeneration and a newly identified variant of Charcot-Marie-Tooth disorder.
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