Citations for
1ALS8, VAPB
Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, René F, Drapeau P, Rouleau GA, Dupuis L.
Hum Mol Genet 22(12):2350-60. doi: 10.1093/hmg/ddt080. Epub 2013 Feb 26. 2013
2ALS8, ALSFTD1, C9orf72, VAPB
VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
van Blitterswijk M, van Es MA, Koppers M, van Rheenen W, Medic J, Schelhaas HJ, van der Kooi AJ, de Visser M, Veldink JH, van den Berg LH.
Neurobiol Aging 33(12):2950.e1-4. doi: 10.1016/j.neurobiolaging.2012.07.004. Epub 2012 Aug 9. 2012
3ALS8, VAPB
A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.
Tran D, Chalhoub A, Schooley A, Zhang W, Ngsee JK.
J Cell Sci 125(Pt 12):2831-6. doi: 10.1242/jcs.102111. Epub 2012 Mar 27. 2012
4ALS8, VAPB
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.
Mitne-Neto M, Machado-Costa M, Marchetto MC, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HC, Oliveira AS, Lazar M, Muotri AR, Zatz M.
Hum Mol Genet 20(18):3642-52. doi: 10.1093/hmg/ddr284. Epub 2011 Jun 17. 2011
5ALS8, VAPB
Novel splice variants of the amyotrophic lateral sclerosis-associated gene VAPB expressed in human tissues.
Nachreiner T, Esser M, Tenten V, Troost D, Weis J, Krüttgen A.
Biochem Biophys Res Commun 394(3):703-8. Epub 2010 Mar 17. 2010
6ALS1, ALS10, ALS6, ALS8, ALS9, ANG, FUS, SOD1, TARDBP, VAPB
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.
J Med Genet 47(8):554-60. Epub 2010 Jun 24.PMID: 20577002 2010
7ALS8, VAPB
Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.
Chen HJ, Anagnostou G, Chai A, Withers J, Morris A, Adhikaree J, Pennetta G, de Belleroche JS.
J Biol Chem 285(51):40266-81. Epub 2010 Oct 12. 2010
8VAPB, ALS8, VAPA
hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction.
Chai A, Withers J, Koh YH, Parry K, Bao H, Zhang B, Budnik V, Pennetta G.
Hum Mol Genet 17(2):266-80. Epub 2007 Oct 18. 2008
9ALS8, VAPB
The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors.
Tsuda H, Han SM, Yang Y, Tong C, Lin YQ, Mohan K, Haueter C, Zoghbi A, Harati Y, Kwan J, Miller MA, Bellen HJ.
Cell 133(6):963-77. 2008
10VAPB, ALS8
Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).
Kanekura K, Nishimoto I, Aiso S, Matsuoka M.
J Biol Chem 281(40):30223-33. Epub 2006 Aug 4. 2006
11ALS8
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13.
Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, Zatz M.
J Med Genet 41(4):315-20. No abstract available. 2004
12ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2
Complex genetics of amyotrophic lateral sclerosis.
Kunst CB.
Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004
13VAPB, ALS8, SMAPA
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M.
Am J Hum Genet 75(5):822-31. Epub 2004 Sep 15. 2004