Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis

Journal of Medical Genetics

Volumn 46, Issue 2, 2009, Pages 112-114

  Daoud, H ^a   Valdmanis, P N ^a   Kabashi, E ^a   Dion, P ^a   Dupre N ^b   Camu, W ^c   Meininger, V ^d   Rouleau, G A ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ LAVAL   (Canada)

^c Institute of Biology   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TAR DNA BINDING PROTEIN;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; TARDBP GENE;

AMYOTROPHIC LATERAL SCLEROSIS; BASE SEQUENCE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; GENE FREQUENCY; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 62149146109     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.062463     Document Type: Article

References (22)

1. Shaw PJ. Molecular and cellular pathways of neurodegeneration in motor neuron disease. J Neurol Neurosurg Psychiatry 2005;76:1046- 57.
2. Pasinelli P, Brown RH. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Bev Neurosci 2006;7:710-23.
3. Rosen DR, Siddique T, Patterson D, Figlewicz D, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, Rahmani Z, Krizus A, McKenna-Yasek D, Cayabyab A, Gaston SM, Berger R, Tanzi RE, Halperin JJ, Herzfeldt B, Van den Bergh R, Hung WY, Bird T, Deng G, Mulder DW, Smyth C, Laing NG, Soriano E, Pericak-Vance MA, Haines J, Rouleau GA, Gusella JS, Horvitz HR, Brown Jr RH. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993;362:59-62.
4. Valdmanis PN, Rouleau GA. Genetics of familial amyotrophic lateral sclerosis. Neurology 2008;70:144-52.
5. Leigh PN, Whitwell H, Garofalo O, Buller J, Swash M, Martin JE, Gallo JM, Weller RO, Anderton BH. Ubiquitin-immunoreactive intraneuronal inclusions in amyotrophic lateral sclerosis. Morphology, distribution, and specificity. Brain 1991;114(Pt 2):775-88.
6. Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, Mann D, Tsuchiya K.Yoshida M, Hashizume Y, Oda T. TDP-43 is a component of ubiquitin-positive taunegative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Bes Commun 2006;351:602-11.
7. Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006;314:130-3.
8. Trojanowski JQ, Lee VM. "Fatal attractions" of proteins. A comprehensive hypothetical mechanism underlying Alzheimer's disease and other neurodegenerative disorders. Ann N Y Acad Sci 2000;924:62-7.
9. Wang HY, Wang IF, Bose J, Shen CK. Structural diversity and functional implications of the eukaryotic TDP gene family. Genomics 2004;83:130-9.
10. Buratti E, Brindisi A, Giombi M, Tisminetzky S, Ayala YM, Baralle FE. TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail: an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 2005;280:37572-84.
11. Buratti E, Dork T, Zuccato E, Pagani F, Romano M, Baralle FE. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. Embo J 2001;20:1774-84.
12. Gitcho MA, Baloh RH, Chakraverty S, Mayo K, Norton JB, Levitch D, Hatanpaa KJ, White CL, Bigio EH, Caselli R, Baker M, Al-Lozi MT, Morris JC, Pestronk A, Rademakers R, Goate AM, Cairns NJ. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008;63:535-8.
13. Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008;40:572-4.
14. Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-72.
15. Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM, Schellenberg GD, Yu CE. TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol 2008;7:409-16.
16. Yokoseki A, Shiga A, Tan CF, Tagawa A, Kaneko H, Koyama A, Eguchi H, Tsujino A, Ikeuchi T, Kakita A, Okamoto K, Nishizawa M, Takahashi H, Onodera o. TDP-43 mutation in familial amyotrophic lateral sclerosis. Ann Neurol 2008;63:538-42.
17. Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, De Pooter T, Del-Favero J, Santens P, De Jonghe P, De Deyn PP, Van Broeckhoven C, Cruts M. Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS. Neurobiol Aging 2007, Dec 7 [Epub ahead of print]
18. Guerreiro RJ, Schymick JC, Crews C, Singleton A, Hardy J, Traynor BJ. TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS ONE 2008;3:e2450.
19. 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(Suppl):96-107.
20. Sunyaev S, Ramensky V, Koch I, Lathe W, Kondrashov AS, Bork P. Prediction of deleterious human alleles. Hum Mol Genet 2001;10:591-7.
21. Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-4.
22. Pramatarova A, Goto J, Nanba E, Nakashima K, Takahashi K, Takagi A, Kanazawa I, Figlewicz DA, Rouleau GA. A two basepair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994;3:2061-2.