A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.

@article{Tran2012AMI,
  title={A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.},
  author={Duvinh Tran and Antonious Chalhoub and Allana Schooley and Wendy Zhang and Johnny K. Ngsee},
  journal={Journal of cell science},
  year={2012},
  volume={125 Pt 12},
  pages={2831-6}
}
A proline to serine mutation (P56S) in vesicle-associated membrane protein-associated protein B and C (VAPB) causes an autosomal dominant form of amyotrophic lateral sclerosis (ALS). We show that the mutation also causes a nuclear envelope defect. Transport of nucleoporins (Nups) and emerin (EMD) to the nuclear envelope is blocked, resulting in their sequestration in dilated cytoplasmic membranes. Simultaneous overexpression of the FFAT motif (two phenylalanine residues in an acidic track… CONTINUE READING
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