메뉴 건너뛰기




Volumn 13, Issue 6, 2012, Pages 580-584

Replication of association of CHRNA4 rare variants with sporadic amyotrophic lateral sclerosis: The Italian multicentre study

(22)  Sabatelli, Mario a,b   Lattante, Serena a   Conte, Amelia a,b   Marangi, Giuseppe a   Luigetti, Marco a   Del Grande, Alessandra a   Chiò, Adriano c   Corbo, Massimo d   Giannini, Fabio e   Mandrioli, Jessica f   Mora, Gabriele g   Calvo, Andrea c   Restagno, Gabriella h   Lunetta, Christian d   Penco, Silvana d   Battistini, Stefania e   Zeppilli, Paolo a   Bizzarro, Alessandra a   Capoluongo, Ettore a   Neri, Giovanni a   more..

g IRCCS   (Italy)

Author keywords

DNA; Genetics; Risk

Indexed keywords

NICOTINIC RECEPTOR ALPHA4;

EID: 84866086673     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2012.704926     Document Type: Article
Times cited : (8)

References (26)
  • 2
    • 80755133370 scopus 로고    scopus 로고
    • Clinical genetics of amyotrophic lateral sclerosis: What do we really know
    • Andersen PM, A l-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
  • 3
    • 33751120678 scopus 로고    scopus 로고
    • A myotrophic lateral sclerosis as a complex genetic disease
    • Simpson CL, A l-Chalabi A . A myotrophic lateral sclerosis as a complex genetic disease . Biochim Biophys Acta . 2006 ; 1762 : 973-85 .
    • (2006) Biochim Biophys Acta , vol.1762 , pp. 973-985
    • Simpson, C.L.1    L-Chalabi, A.A.2
  • 4
    • 80051586618 scopus 로고    scopus 로고
    • Modelling the effects of penetrance and family size on rates of sporadic and familial disease
    • Al-Chalabi A, L ewis C M. M odelling the effects of penetrance and family size on rates of sporadic and familial disease . Hum Hered . 2011; 71 : 281-8 .
    • (2011) Hum Hered . , vol.71 , pp. 281-288
    • Al-Chalabi, A.1    Ewis, C.M.L.2
  • 6
    • 80054837386 scopus 로고    scopus 로고
    • A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
    • Renton AE, M ajounie E, W aite A, S im ón -S án chez J, Rollinson S, Gibbs JR, et al . A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD . Neuron . 2011; 72 : 257-68 .
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3    Simón-S Ánchez, J.4    Rollinson, S.5    Gibbs, J.R.6
  • 7
    • 84863602161 scopus 로고    scopus 로고
    • Contribution of major amyotrophic lateral sclerosis genes to the aetiology of sporadic disease
    • Lattante S, C onte A, Z ollino M, L uigetti M, d el Grande A, Marangi G, et al . Contribution of major amyotrophic lateral sclerosis genes to the aetiology of sporadic disease . Neurology . 2012; 79 : 66 - 72 .
    • (2012) Neurology , Issue.79 , pp. 66-72
    • Lattante, S.1    Conte, A.2    Zollino, M.3    Luigetti, M.4    Del Grande, A.5    Marangi, G.6
  • 8
    • 0034969437 scopus 로고    scopus 로고
    • Are Rare Variants Responsible for Susceptibility to Complex Diseases
    • Pritchard JK. A re Rare Variants Responsible for Susceptibility to Complex Diseases? Am J Hum Genet . 2001; 69 : 124 - 37 .
    • (2001) Am J Hum Genet , vol.69 , pp. 124-137
    • Pritchard, J.K.1
  • 9
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer W, B onilla C. C ommon and rare variants in multifactorial susceptibility to common diseases . Nat Genet . 2008; 40 : 695-701 .
    • (2008) Nat Genet , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 10
    • 70349565939 scopus 로고    scopus 로고
    • Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis
    • Sabatelli M, E usebi F, A l-Chalabi A, C onte A, M adia F, Luigetti M, et al . Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis . Hum Mol Genet . 2006; 18 : 3997-4006 .
    • (2006) Hum Mol Genet , vol.18 , pp. 3997-4006
    • Sabatelli, M.1    Eusebi, F.2    L-Chalabi, A.A.3    Conte, A.4    Madia, F.5    Luigetti, M.6
  • 11
    • 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, 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 . J Neurol Sci . 1994 : 124 : S96 - 107 .
    • (1994) J Neurol Sci , vol.24
    • Brooks, B.R.1
  • 12
    • 2542486433 scopus 로고    scopus 로고
    • Nicotinic acetylcholine receptors and the regulation of neuronal signaling
    • Dajas-Bailador F, W onnacott S. N icotinic acetylcholine receptors and the regulation of neuronal signalling . Trends Pharmacol Sci . 2004; 25 : 317-24 .
    • (2004) Trends Pharmacol Sci , vol.25 , pp. 317-324
    • Dajas-Bailador, F.1    Wonnacott, S.2
  • 14
    • 75049085215 scopus 로고    scopus 로고
    • Mechanisms of neuroprotective effects of nicotine and acetylcholinesterase inhibitors: Role of alpha4 and alpha7 receptors in neuroprotection
    • Akaike A, T akada-Takatori Y, K ume T, I zum Y. M echanisms of neuroprotective effects of nicotine and acetylcholinesterase inhibitors: Role of alpha4 and alpha7 receptors in neuroprotection . J Mol Neurosci. 2010; 40 : 211-6 .
    • (2010) J Mol Neurosci. , Issue.40 , pp. 211-216
    • Akaike, A.1    Takada-Takatori, Y.2    Kume, T.3    Izum, Y.4
  • 15
    • 0037211658 scopus 로고    scopus 로고
    • Developmental expression of nicotinic receptors in the chick and human spinal cord
    • Keiger CJ, P revette D, C onroy WG, O ppenheim RW . Developmental expression of nicotinic receptors in the chick and human spinal cord . J Comp Neurol. 2003; 455 : 86-99 .
    • (2003) J Comp Neurol , vol.455 , pp. 86-99
    • Keiger, C.J.1    Prevette, D.2    Conroy, W.G.3    Oppenheim, R.W.4
  • 16
    • 0242300269 scopus 로고    scopus 로고
    • Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways
    • Khan I, O saka H, S tanislaus S, C alvo RM, D eerinck T, Yaksh TL, et al . Nicotinic acetylcholine receptor distribution in relation to spinal neurotransmission pathways . J Comp Neurol . 2003; 467 : 44-59 .
    • (2003) J Comp Neurol , vol.467 , pp. 44-59
    • Khan, I.1    Osaka, H.2    Stanislaus, S.3    Calvo, R.M.4    Deerinck, T.5    Yaksh, T.L.6
  • 18
    • 9644262558 scopus 로고    scopus 로고
    • Identifi ed spinal motor neurons of young rats possess nicotinic acetylcholine receptors of the heteromeric family
    • Ogier R, L iu X, T ribollet E, B ertrand D, R aggenbass M . Identifi ed spinal motor neurons of young rats possess nicotinic acetylcholine receptors of the heteromeric family . Eur J Neurosci . 2004; 20 : 2591-7 .
    • (2004) Eur J Neurosci , vol.20 , pp. 2591-2597
    • Ogier, R.1    Liu, X.2    Tribollet, E.3    Bertrand, D.4    Raggenbass, M.5
  • 19
    • 0032839033 scopus 로고    scopus 로고
    • Presence of functional neuronal nicotinic acetylcholine receptors in brainstem motor neurons of the rat
    • Zaninetti M, T ribollet E, B ertrand D, R aggenbass M . Presence of functional neuronal nicotinic acetylcholine receptors in brainstem motor neurons of the rat . Eur J Neurosci . 1999; 11 : 2737-48 .
    • (1999) Eur J Neurosci , vol.11 , pp. 2737-2748
    • Zaninetti, M.1    Tribollet, E.2    Bertrand, D.3    Raggenbass, M.4
  • 20
    • 0036086391 scopus 로고    scopus 로고
    • Properties of nicotinic receptors underlying Renshaw cell excitation by alpha-motor neurons in neonatal rat spinal cord
    • Dourado M, S argent PB. P roperties of nicotinic receptors underlying Renshaw cell excitation by alpha-motor neurons in neonatal rat spinal cord . J Neurophysiol . 2002; 87 : 3117-25 .
    • (2002) J Neurophysiol , vol.87 , pp. 3117-3125
    • Dourado, M.1    Sargent, P.B.2
  • 21
    • 77958615935 scopus 로고    scopus 로고
    • Adominant mutation in a neuronal acetylcholine receptor subunit leads to motor neuron degeneration in Caenorhabditis elegans
    • Barbagallo B, P rescott HA, B oyle P, Climer, F rancis MM. A dominant mutation in a neuronal acetylcholine receptor subunit leads to motor neuron degeneration in Caenorhabditis elegans . J Neurosci . 2010; 30 : 13932-42 .
    • (2010) J Neurosci . , Issue.30 , pp. 13932-13942
    • Barbagallo, B.1    Prescott, H.A.2    Boyle, P.3    Climer Francis, M.M.4
  • 22
    • 34147116715 scopus 로고    scopus 로고
    • Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
    • Kryukov GV, P ennacchio LA, S unyaev SR. M ost rare missense alleles are deleterious in humans: Implications for complex disease and association studies . Am J Hum Genet . 2007; 80 : 727-39 .
    • (2007) Am J Hum Genet , vol.80 , pp. 727-739
    • Kryukov, G.V.1    Pennacchio, L.A.2    Sunyaev, S.R.3
  • 23
    • 77549088703 scopus 로고    scopus 로고
    • Calcium dysregulation in amyotrophic lateral sclerosis
    • Grosskreutz J, v an den Bosch L, K eller B U. C alcium dysregulation in amyotrophic lateral sclerosis . Cell Calcium . 2010; 47 : 165-74 .
    • (2010) Cell Calcium. , Issue.47 , pp. 165-174
    • Grosskreutz, J.1    Van Den Bosch, L.2    Keller, B.U.3
  • 24
    • 80052081196 scopus 로고    scopus 로고
    • Stress signaling from the endoplasmic reticulum: A central player in the pathogenesis of amyotrophic lateral sclerosis
    • Walker AK, A tkin J D. S tress signaling from the endoplasmic reticulum: A central player in the pathogenesis of amyotrophic lateral sclerosis . IUBMB Life . 2011; 63 : 754-63
    • (2011) IUBMB Life. , Issue.63 , pp. 754-763
    • Walker, A.K.1    Atkin, J.D.2
  • 25
    • 84856607673 scopus 로고    scopus 로고
    • Endoplasmic reticulum stress and the ER mitochondrial calcium cycle in amyotrophic lateral sclerosis
    • Lautenschlaeger J, P rell T, G rosskreutz J. E ndoplasmic reticulum stress and the ER mitochondrial calcium cycle in amyotrophic lateral sclerosis . Amyotroph Lateral Scler . 2012; 13 : 166-77 .
    • (2012) Amyotroph Lateral Scler. , vol.13 , pp. 166-177
    • Lautenschlaeger, J.1    Prell, T.2    Grosskreutz, J.3
  • 26
    • 80052410191 scopus 로고    scopus 로고
    • Trafficking of alpha4 nicotinic receptors revealed by superecliptic phluorin: Effects of a beta4 amyotrophic lateral sclerosis-associated mutation and chronic exposure to nicotine
    • Richards CI, S rinivasan R, X iao C, M ackey ED, M iwa JM, Lester HA . Traffi cking of alpha4 nicotinic receptors revealed by superecliptic phluorin: effects of a beta4 amyotrophic lateral sclerosis-associated mutation and chronic exposure to nicotine . J Biol Chem . 2011; 286 : 31241-9 .
    • (2011) J Biol Chem . , vol.286 , pp. 31241-31249
    • Richards, C.I.1    Srinivasan, R.2    Xiao, C.3    MacKey, E.D.4    Miwa, J.M.5    Lester, H.A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.