Novel splice variants of the amyotrophic lateral sclerosis-associated gene VAPB expressed in human tissues

Biochemical and Biophysical Research Communications

Volumn 394, Issue 3, 2010, Pages 703-708

  Nachreiner, T ^a   Esser, M ^a   Tenten, V ^a   Troost, D ^b   Weis, J ^a   Kruttgen A ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

ALS; HCV; Hepatitis c virus; Neurodegeneration; Proteasome; VAPC

Indexed keywords

ISOPROTEIN; MEMBRANE PROTEIN; PROTEASOME; PROTEIN VAPB; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CELL STRAIN HEK293; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; HUMAN; HUMAN CELL; MISSENSE MUTATION; MUSCLE; NERVE CELL DEGENERATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SPINAL CORD;

ALTERNATIVE SPLICING; AMYOTROPHIC LATERAL SCLEROSIS; CELL LINE; CLONING, MOLECULAR; HUMANS; IMMUNOPRECIPITATION; VESICULAR TRANSPORT PROTEINS;

EUKARYOTA; HEPATITIS C VIRUS;

EID: 77950516260     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2010.03.055     Document Type: Article

References (21)

1. Boillee S., Vande Velde C., and Cleveland D.W. ALS: a disease of motor neurons and their nonneuronal neighbors. Neuron 52 (2006) 39-59
2. Kasperaviciute D., Weale M.E., Shianna K.V., Banks G.T., Simpson C.L., Hansen V.K., Turner M.R., Shaw C.E., Al-Chalabi A., Pall H.S., Goodall E.F., Morrison K.E., Orrell R.W., Beck M., Jablonka S., Sendtner M., Brockington A., Ince P.G., Hartley J., Nixon H., Shaw P.J., Schiavo G., Wood N.W., Goldstein D.B., and Fisher E.M. Large-scale pathways-based association study in amyotrophic lateral sclerosis. Brain 130 (2007) 2292-2301
3. Nishimura A.L., Mitne-Neto M., Silva H.C., Richieri-Costa A., Middleton S., Cascio D., Kok F., Oliveira J.R., Gillingwater T., Webb J., Skehel P., and Zatz M. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75 (2004) 822-831
4. Nishimura Y., Hayashi M., Inada H., and Tanaka T. Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins. Biochem. Biophys. Res. Commun. 254 (1999) 21-26
5. Lapierre L.A., Tuma P.L., Navarre J., Goldenring J.R., and Anderson J.M. VAP-33 localizes to both an intracellular vesicle population and with occludin at the tight junction. J. Cell Sci. 112 Pt. 21 (1999) 3723-3732
6. Pennetta G., Hiesinger P.R., Fabian-Fine R., Meinertzhagen I.A., and Bellen H.J. Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner. Neuron 35 (2002) 291-306
7. Foster L.J., Weir M.L., Lim D.Y., Liu Z., Trimble W.S., and Klip A. A functional role for VAP-33 in insulin-stimulated GLUT4 traffic. Traffic 1 (2000) 512-521
8. Kanekura K., Nishimoto I., Aiso S., and Matsuoka M. Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8). J. Biol. Chem. 281 (2006) 30223-30233
9. Teuling E., Ahmed S., Haasdijk E., Demmers J., Steinmetz M.O., Akhmanova A., Jaarsma D., and Hoogenraad C.C. Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates. J. Neurosci. 27 (2007) 9801-9815
10. Kawano M., Kumagai K., Nishijima M., and Hanada K. Efficient trafficking of ceramide from the endoplasmic reticulum to the Golgi apparatus requires a VAMP-associated protein-interacting FFAT motif of CERT. J. Biol. Chem. 281 (2006) 30279-30288
11. Kukihara H., Moriishi K., Taguwa S., Tani H., Abe T., Mori Y., Suzuki T., Fukuhara T., Taketomi A., Maehara Y., and Matsuura Y. Human VAP-C negatively regulates hepatitis C virus propagation. J. Virol. 83 (2009) 7959-7969
12. Moises T., Wuller S., Saxena S., Senderek J., Weis J., and Kruttgen A. Proteasomal inhibition alters the trafficking of the neurotrophin receptor TrkA. Biochem. Biophys. Res. Commun. 387 (2009) 360-364
13. Mitne-Neto M., Ramos C.R., Pimenta D.C., Luz J.S., Nishimura A.L., Gonzales F.A., Oliveira C.C., and Zatz M. A mutation in human VAP-B - MSP domain, present in ALS patients, affects the interaction with other cellular proteins. Protein Expr. Purif. 55 (2007) 139-146
14. Saxena S., Cabuy E., and Caroni P. A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice. Nat. Neurosci. 12 (2009) 627-636
15. Paschen W., and Mengesdorf T. Endoplasmic reticulum stress response and neurodegeneration. Cell Calcium 38 (2005) 409-415
16. Hoozemans J.J., Stieler J., van Haastert E.S., Veerhuis R., Rozemuller A.J., Baas F., Eikelenboom P., Arendt T., and Scheper W. The unfolded protein response affects neuronal cell cycle protein expression: implications for Alzheimer's disease pathogenesis. Exp. Gerontol. 41 (2006) 380-386
17. Johnson B.S., Snead D., Lee J.J., McCaffery J.M., Shorter J., and Gitler A.D. TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. J. Biol. Chem. 284 (2009) 20329-20339
18. Medrano A.Z., Barmada S.J., Biasini E., and Harris D.A. GFP-tagged mutant prion protein forms intra-axonal aggregates in transgenic mice. Neurobiol. Dis. 31 (2008) 20-32
19. Robertson J., Doroudchi M.M., Nguyen M.D., Durham H.D., Strong M.J., Shaw G., Julien J.P., and Mushynski W.E. A neurotoxic peripherin splice variant in a mouse model of ALS. J. Cell Biol. 160 (2003) 939-949
20. Hirano M., Hung W.Y., Cole N., Azim A.C., Deng H.X., and Siddique T. Multiple transcripts of the human Cu, Zn superoxide dismutase gene. Biochem. Biophys. Res. Commun. 276 (2000) 52-56
21. Honig L.S., Chambliss D.D., Bigio E.H., Carroll S.L., and Elliott J.L. Glutamate transporter EAAT2 splice variants occur not only in ALS, but also in AD and controls. Neurology 55 (2000) 1082-1088