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Volumn 14, Issue 7-8, 2013, Pages 620-627

No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland

Author keywords

ALS; Oligomutant; Risk factor; SOD1; VAPB

Indexed keywords

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BLOOD SAMPLING; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; ICELAND; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PORTUGAL; PRIORITY JOURNAL; RELATIVE; SOD1 GENE; SWEDEN; VAPB GENE;

EID: 84887498238     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.822515     Document Type: Article
Times cited : (8)

References (38)
  • 1
    • 0025237394 scopus 로고
    • Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy
    • Hentati F, Ben Hamida C. H ereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy. Brain. 1990; 113:347-63.
    • (1990) Brain , vol.113 , pp. 347-363
    • Hentati, F.1    Ben Hamida, C.2
  • 2
    • 0029010496 scopus 로고
    • Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase
    • Andersen PM, Nilsson P, Ala-Hurula V, Keranen ML, Tarvainen I, Haltia T, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase. Nat Genet. 1995; 10:61-6.
    • (1995) Nat Genet , vol.10 , pp. 61-66
    • Andersen, P.M.1    Nilsson, P.2    Ala-Hurula, V.3    Keranen, M.L.4    Tarvainen, I.5    Haltia, T.6
  • 3
    • 80755133370 scopus 로고    scopus 로고
    • Clinical genetics of amyotrophic lateral sclerosis: What do we really know
    • Andersen PM, Al-Chalabi A. C linical genetics of amyotrophic lateral sclerosis: what do we really know Nat Rev Neurol. 2011; 7:603-15.
    • (2011) Nat Rev Neurol , vol.7 , pp. 603-615
    • Andersen, P.M.1    Al-Chalabi, A.2
  • 5
    • 6344257200 scopus 로고    scopus 로고
    • A mutation in the vesicletraffi cking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
    • Nishimura AL, Mitne-Neto M, Silva H C, Richieri-Costa A, Middelton S, Cascio D, et al. A mutation in the vesicletraffi cking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004; 75:822-31.
    • (2004) Am J Hum Genet , vol.75 , pp. 822-831
    • Nishimura, A.L.1    Mitne-Neto, M.2    Silva, H.C.3    Richieri-Costa, A.4    Middelton, S.5    Cascio, D.6
  • 7
    • 77950170203 scopus 로고    scopus 로고
    • The p.P56S mutation in the VAPB gene is not due to a single founder: The first European case
    • Funke A D, Esser M, Krü ttgen A, Weis J, Mittne-Neto M, Lazar M, et al. The p.P56S mutation in the VAPB gene is not due to a single founder: the fi rst European case. Clin Genet. 2010; 77:302-3.
    • (2010) Clin Genet , vol.77 , pp. 302-303
    • Funke Ad, E.1
  • 8
    • 77955396350 scopus 로고    scopus 로고
    • 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, et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. J Med Genet. 2010; 47:554-60.
    • (2010) J Med Genet , vol.47 , pp. 554-560
    • Millecamps, S.1    Salachas, F.2    Cazeneuve, C.3    Gordon, P.4    Bricka, B.5    Camuzat, A.6
  • 9
    • 41649090538 scopus 로고    scopus 로고
    • New VAPB deletion variant and exclusion of VAPB mutations in familial ALS
    • Landers J E, Leclerc AL, Shi L, Virkud A, Cho T, Maxwell MM, et al. New VAPB deletion variant and exclusion of VAPB mutations in familial ALS. Neurology. 2008; 70:1179-85.
    • (2008) Neurology , vol.70 , pp. 1179-1185
    • Landers, J.E.1    Leclerc, A.L.2    Shi, L.3    Virkud, A.4    Cho, T.5    Maxwell, M.M.6
  • 10
    • 0033534788 scopus 로고    scopus 로고
    • Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMPassociated) proteins
    • Nishimura Y, Hayashi M, Inada H, Tanaka T. M olecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMPassociated) proteins. Biochem Biophys Res Commun. 1999; 254:21-6.
    • (1999) Biochem Biophys Res Commun , vol.254 , pp. 21-26
    • Nishimura, Y.1    Hayashi, M.2    Inada, H.3    Tanaka, T.4
  • 11
    • 0032528227 scopus 로고    scopus 로고
    • Identifi cation of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): A broadly expressed protein that binds to VAMP
    • W eir M L, Klip A, Trimble W S. I dentifi cation of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP. Biochem J. 1998; 333:247-51.
    • (1998) Biochem J , vol.333 , pp. 247-251
    • Weir, M.L.1    Klip, A.2    Trimble, W.S.3
  • 12
    • 0033606771 scopus 로고    scopus 로고
    • ERG30 a VAP-33-related protein functions in protein transport mediated by COPI vesicles
    • Soussan L, Burakov D, Daniels M P, Toister-Achituv M, Porat A, Yarden Y, et al. ERG30, aVAP-33-related protein, functions in protein transport mediated by COPI vesicles. J Cell Biol. 1999; 146:301-11.
    • (1999) J Cell Biol , vol.146 , pp. 301-311
    • Soussan, L.1    Burakov, D.2    Daniels, M.P.3    Toister-Achituv, M.4    Porat, A.5    Yarden, Y.6
  • 13
    • 34848904785 scopus 로고    scopus 로고
    • Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates
    • Teuling E, Ahmed S, Haasdijk E, Demmers J, Steinmetz MO, Akhmanova A, et al. 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. 2007; 27:9801-15.
    • (2007) J Neurosci , vol.27 , pp. 9801-9815
    • Teuling, E.1    Ahmed, S.2    Haasdijk, E.3    Demmers, J.4    Steinmetz, M.O.5    Akhmanova, A.6
  • 15
    • 78650048929 scopus 로고    scopus 로고
    • 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, et al. Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. J Biol Chem. 2010; 285:40266-81.
    • (2010) J Biol Chem. , vol.285 , pp. 40266-40281
    • Chen, H.J.1    Anagnostou, G.2    Chai, A.3    Withers, J.4    Morris, A.5    Adhikaree, J.6
  • 17
    • 40649086996 scopus 로고    scopus 로고
    • Helsinki and the declaration of helsinki
    • de Roy P G. H elsinki and the Declaration of Helsinki. W orld Med J. 2004; 50:9-11.
    • (2004) World Med J , vol.50 , pp. 9-11
    • De Roy, P.G.1
  • 18
    • 0028142392 scopus 로고
    • El escorial world federation of neurology criteria for the diagnosis of amyotrophic lateral sclerosis
    • Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ' Clinical limits of amyotrophic lateral sclerosis ' workshop contributors
    • Brooks BR. E l Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial ' Clinical limits of amyotrophic lateral sclerosis ' workshop contributors. J Neurol Sci. 1994; 124(Suppl):96-107.
    • (1994) J Neurol Sci , vol.124 , Issue.SUPPL. , pp. 96-107
    • Brooks, B.R.1
  • 21
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. P redicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009; 4:1073-81.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 22
    • 34547100092 scopus 로고    scopus 로고
    • SNAP: Predict effect of non-synonymous polymorphisms on function
    • Bromberg Y, Rost B. SNAP: predict effect of non-synonymous polymorphisms on function. Nucleic Acids Res. 2007; 35:3823-35.
    • (2007) Nucleic Acids Res , vol.35 , pp. 3823-3835
    • Bromberg, Y.1    Rost, B.2
  • 24
    • 27544469800 scopus 로고    scopus 로고
    • Predicting protein stability changes from sequences using support vector machines
    • Capriotti E, Fariselli P, Calabrese R, Casadio R. P redicting protein stability changes from sequences using support vector machines. Bioinformatics. 2005; 21(Suppl 2):54-8.
    • (2005) Bioinformatics , vol.21 , Issue.SUPPL. 2 , pp. 54-58
    • Capriotti, E.1    Fariselli, P.2    Calabrese, R.3    Casadio, R.4
  • 25
    • 23144461249 scopus 로고    scopus 로고
    • I-Mutant2.0: Predicting stability changes upon mutation from the protein sequence or structure
    • Capriotti E, Fariselli P, Casadio R. I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure. Nucleic Acids Res. 2005; 33:306-10.
    • (2005) Nucleic Acids Res , vol.33 , pp. 306-310
    • Capriotti, E.1    Fariselli, P.2    Casadio, R.3
  • 26
    • 33751013750 scopus 로고    scopus 로고
    • Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information
    • Capriotti E, Calabrese R, Casadio R. P redicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information. Bioinformatics. 2006; 22:2729-34.
    • (2006) Bioinformatics , vol.22 , pp. 2729-2734
    • Capriotti, E.1    Calabrese, R.2    Casadio, R.3
  • 28
    • 80054078476 scopus 로고    scopus 로고
    • Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega
    • Sievers F, Wilm A, Dineen D, Gibson TJ, Karplus K, Li W, et al. Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega. Mol Syst Biol. 2011; 7:539.
    • (2011) Mol Syst Biol , vol.7 , pp. 539
    • Sievers, F.1    Wilm, A.2    Dineen, D.3    Gibson, T.J.4    Karplus, K.5    Li, W.6
  • 30
    • 84862221167 scopus 로고    scopus 로고
    • SMART 7: Recent updates to the protein domain annotation resource
    • Letunic I, Doerks T, Bork P. S MART 7: recent updates to the protein domain annotation resource. Nucleic Acids Res. 2012; 40:302-5.
    • (2012) Nucleic Acids Res , vol.40 , pp. 302-305
    • Letunic, I.1    Doerks, T.2    Bork, P.3
  • 31
    • 0032568655 scopus 로고    scopus 로고
    • SMART, asimple modular architecture research tool: Identifi cation of signalling domains
    • Schultz J, Milpetz F, Bork P, Ponting CP. S MART, asimple modular architecture research tool: identifi cation of signalling domains. Proc Natl Acad Sci USA. 1998; 95:5857-64.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 5857-5864
    • Schultz, J.1    Milpetz, F.2    Bork, P.3    Ponting, C.P.4
  • 33
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
    • den Dunnen JT, Antonarakis SE. M utation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000; 15:7-12.
    • (2000) Hum Mutat , vol.15 , pp. 7-12
    • Den Dunnen, J.T.1    Antonarakis, S.E.2
  • 34
    • 84972545970 scopus 로고
    • A survey of exact inference for contingency tables
    • Agresti A. A Survey of Exact Inference for Contingency Tables. Statist Sci. 1992; 7:131-53.
    • (1992) Statist Sci , vol.7 , pp. 131-153
    • Agresti, A.1
  • 35
    • 58549088349 scopus 로고    scopus 로고
    • ALS-linked P56S-VAPB an aggregated loss-of-function mutant of VAPB predisposes motor neurons to ER stress-related death by inducing aggregation of coexpressed wild-type VAPB
    • Suzuki H, Kanekura K, Levine T P, Kohno K, Olkkonen VM, Aiso S, et al. ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of coexpressed wild-type VAPB. J Neurochem. 2009; 108:973-85.
    • (2009) J Neurochem , vol.108 , pp. 973-985
    • Suzuki, H.1    Kanekura, K.2    Levine, T.P.3    Kohno, K.4    Olkkonen, V.M.5    Aiso, S.6
  • 36
    • 43449099127 scopus 로고    scopus 로고
    • 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, et al. The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. Cell. 2008; 133:963-77.
    • (2008) Cell , vol.133 , pp. 963-977
    • Tsuda, H.1    Han, S.M.2    Yang, Y.3    Tong, C.4    Lin, Y.Q.5    Mohan, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.