1 | ALS8, VAPB
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| Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.
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| 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.
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| Hum Mol Genet 22(12):2350-60. doi: 10.1093/hmg/ddt080. Epub 2013 Feb 26.
2013
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2 | ALS8, ALSFTD1, C9orf72, VAPB
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| VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient.
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| 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.
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| Neurobiol Aging 33(12):2950.e1-4. doi: 10.1016/j.neurobiolaging.2012.07.004. Epub 2012 Aug 9.
2012
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3 | ALS8, VAPB
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| A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect.
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| Tran D, Chalhoub A, Schooley A, Zhang W, Ngsee JK.
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| J Cell Sci 125(Pt 12):2831-6. doi: 10.1242/jcs.102111. Epub 2012 Mar 27.
2012
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4 | ALS8, VAPB
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| Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.
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| 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.
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| Hum Mol Genet 20(18):3642-52. doi: 10.1093/hmg/ddr284. Epub 2011 Jun 17.
2011
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5 | ALS8, VAPB
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| Novel splice variants of the amyotrophic lateral sclerosis-associated gene VAPB expressed in human tissues.
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| Nachreiner T, Esser M, Tenten V, Troost D, Weis J, Krüttgen A.
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| Biochem Biophys Res Commun 394(3):703-8. Epub 2010 Mar 17.
2010
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6 | ALS1, ALS10, ALS6, ALS8, ALS9, ANG, FUS, SOD1, TARDBP, VAPB
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| SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.
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| 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.
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| J Med Genet 47(8):554-60. Epub 2010 Jun 24.PMID: 20577002 2010
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7 | ALS8, VAPB
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| Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.
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| Chen HJ, Anagnostou G, Chai A, Withers J, Morris A, Adhikaree J, Pennetta G, de Belleroche JS.
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| J Biol Chem 285(51):40266-81. Epub 2010 Oct 12.
2010
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8 | VAPB, ALS8, VAPA
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| 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.
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| Chai A, Withers J, Koh YH, Parry K, Bao H, Zhang B, Budnik V, Pennetta G.
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| Hum Mol Genet 17(2):266-80. Epub 2007 Oct 18. 2008
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9 | ALS8, VAPB
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| The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors.
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| Tsuda H, Han SM, Yang Y, Tong C, Lin YQ, Mohan K, Haueter C, Zoghbi A, Harati Y, Kwan J, Miller MA, Bellen HJ.
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| Cell 133(6):963-77. 2008
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10 | VAPB, ALS8
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| Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).
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| Kanekura K, Nishimoto I, Aiso S, Matsuoka M.
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| J Biol Chem 281(40):30223-33. Epub 2006 Aug 4. 2006
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11 | ALS8
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| A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13.
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| Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, Zatz M.
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| J Med Genet 41(4):315-20. No abstract available. 2004
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12 | ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2
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| Complex genetics of amyotrophic lateral sclerosis.
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| Kunst CB.
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| Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004
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13 | VAPB, ALS8, SMAPA
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| A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.
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| 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.
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| Am J Hum Genet 75(5):822-31. Epub 2004 Sep 15. 2004
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