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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Nishimura, Agnes L., Mitne-Neto, Miguel, Silva, Helga C.A., Richieri-Costa, Antônio, Middleton, Susan, Cascio, Duilio, Kok, Fernando, Oliveira, João R.M., Gillingwater, Tom, Webb, Jeanette, Skehel, Paul, Zatz, Mayana·2004·The American Journal of Human Genetics
DOI 10.1086/425287
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Research works printed but not linked: 30

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  14. Mallick, 2002, The directional atomic solvation energy: an atom-based potential for the assignment of protein sequences to known folds, Proc Natl Acad Sci USA, 99, 16041, 10.1073/pnas.252626399 · DOI
  15. Miller, 2001, A sperm cytoskeletal protein that signals oocyte meiotic maturation and ovulation, Science, 291, 2144, 10.1126/science.1057586 · DOI
  16. Moreira, 2004, Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2, Nat Genet, 36, 225, 10.1038/ng1303 · DOI
  17. Nishimura, 2004, A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13, J Med Genet, 41, 315, 10.1136/jmg.2003.013029 · DOI
  18. Nishimura, 1999, Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins, Biochem Biophys Res Commun, 254, 21, 10.1006/bbrc.1998.9876 · DOI
  19. Pennetta, 2002, Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner, Neuron, 35, 291, 10.1016/S0896-6273(02)00769-9 · DOI
  20. Richieri-Costa, 1981, Autosomal dominant late adult spinal muscular atrophy, type Finkel, Am J Med Genet, 9, 119, 10.1002/ajmg.1320090206 · DOI
  21. Skehel, 2000, Mouse VAP33 is associated with the endoplasmic reticulum and microtubules, Proc Natl Acad Sci USA, 97, 1101, 10.1073/pnas.97.3.1101 · DOI
  22. Skehel, 1995, A VAMP-binding protein from Aplysia required for neurotransmitter release, Science, 269, 1580, 10.1126/science.7667638 · DOI
  23. Soussan, 1999, ERG30, a VAP-33-related protein, functions in protein transport mediated by COPI vesicles, J Cell Biol, 146, 301, 10.1083/jcb.146.2.301 · DOI
  24. Takata, 2004, A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21, J Med Genet, 41, 224, 10.1136/jmg.2003.013201 · DOI
  25. Weiler, 1996, Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype, Am J Hum Genet, 59, 872
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  27. Wyles, 2002, Vesicle-associated membrane protein-associated protein-A (VAP-A) interacts with the oxysterol-binding protein to modify export from the endoplasmic reticulum, J Biol Chem, 277, 29908, 10.1074/jbc.M201191200 · DOI
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Metadata

Authors
Nishimura, A. L., Mitne-Neto, M., Silva, H. C. A., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J. R. M., Gillingwater, T., Webb, J., Skehel, P., & Zatz, M.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2004-11
Volume
75
Issue
5
Pages
822-831
ISSN
0002-9297
DOI
10.1086/425287
Cited by
880
References
1
Language
en
Licence

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