Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 22, 2009, Pages 9004-9009

  Landers, John E ^a,q   Melki, Judith ^b,r   Meininger, Vincent ^c   Glass, Jonathan D ^d   Van Den Berg, Leonard H ^e   Van Es, Michael A ^e   Sapp, Peter C ^a,f   Van Vught, Paul W J ^e   McKenna Yasek, Diane M ^a   Blauw, Hylke M ^e   Cho, Ting Jan ^a   Polak, Meraida ^d   Shi, Lijia ^a   Wills, Anne Marie ^a   Broom, Wendy J ^a   Ticozzi, Nicola ^a,g   Silani, Vincenzo ^g   Ozoguz, Aslihan ^h   Rodriguez Leyva, Ildefonso ^a,i   Veldink, Jan H ^e   Ivinson, Adrian J ^j   Saris, Christiaan G J ^e   Hosler, Betsy A ^a   Barnes Nessa, Alayna ^a   Couture, Nicole ^a   Wokke, John H J ^e   Kwiatkowski Jr , Thomas J ^a   Ophoff, Roel A ^e,k   Cronin, Simon ^l   Hardiman, Orla ^l   Diekstra, Frank P ^m   Leigh, P Nigel ^m   Shaw, Christopher E ^m   Simpson, Claire L ^m   Hansen, Valerie K ^m   Powell, John F ^m   Corcia, Philippe ⁿ   Salachas, François ^c   Heath, Simon ^o   Galan, Pilar ^p   Georges, Franck ^b   Horvitz, H Robert ^f   Lathrop, Mark ^o   Purcell, Shaun ^a   Al Chalabi, Ammar ^m   Brown Jr , Robert H ^a,q   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^g UNIVERSITY OF MILAN   (Italy)

^h BOGAZICI UNIVERSITY   (Turkey)

ⁱ UNIVERSIDAD AUTÓNOMA DE SAN LUIS POTOSÍ   (Mexico)

^j The Harvard Center for Neurodegeneration & Repair   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l BEAUMONT HOSPITAL   (Ireland)

^m KING'S COLLEGE LONDON   (United Kingdom)

ⁿ CHU BRETONNEAU   (France)

^o CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^p Institut National de la Recherche Agronomique   (France)

^q UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^r HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

more..

Author keywords

Genome wide association study; Single nucleotide polymorphism

Indexed keywords

KINESIN ASSOCIATED PROTEIN 3; PROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; EUROPE; GENE; GENE EXPRESSION; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL; UNITED STATES;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ALLELES; AMYOTROPHIC LATERAL SCLEROSIS; CYTOSKELETAL PROTEINS; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC;

EID: 67049155508     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0812937106     Document Type: Article

References (48)

1. Tandan R, Bradley WG (1985) Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology and ethical issues in management. Ann Neurol 18:271-280. (Pubitemid 15023099)
2. Tandan R, Bradley WG (1985) Amyotrophic lateral sclerosis: Part 2. Etiopathogenesis. Ann Neurol 18:419-431. (Pubitemid 16138012)
3. Mulder D, Kurland L, Offord K, Beard C (1986) Familial adult motor neuron disease: Amyotrophic lateral sclerosis. Neurology 36:511-517. (Pubitemid 16070005)
4. Rosen DR, et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362:59-62. (Pubitemid 23087289)
5. Sreedharan J, et al. (2008) TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319:1668-1672.
6. Kabashi E, et al. (2008) TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 40:572-574. (Pubitemid 351601218)
7. Nishimura AL, et al. (2004) A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 75:822-831. (Pubitemid 39390489)
8. Hadano S, et al. (2001) A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 29:166-173. (Pubitemid 32952653)
9. Yang Y, et al. (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29:160-165. (Pubitemid 32952652)
10. Chen YZ, et al. (2004) DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 74:1128-1135. (Pubitemid 38669312)
11. Puls I, et al. (2003) Mutant dynactin in motor neuron disease. Nat Genet 33:455-456. (Pubitemid 36390002)
12. Kwiatkowski TJ, Jr, et al. (2009) Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:1205-1208.
13. Vance C, et al. (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208-1211.
14. Greenway MJ, et al. (2006) ANG mutations segregate with familial and "sporadic" amyotrophic lateral sclerosis. Nat Genet 38:411-413.
15. Lambrechts D, et al. (2003) VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death. Nat Genet 34:383-394. (Pubitemid 36935331)
16. Wang XS, et al. (2004) Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences. J Neurol Sci 227:27-33. (Pubitemid 39491122)
17. Saeed M, et al. (2006) Paraoxonase cluster polymorphisms are associated with sporadic ALS. Neurology 67:771-776. (Pubitemid 44394187)
18. Slowik A, et al. (2006) Paraoxonase gene polymorphisms and sporadic ALS. Neurology 67:766-770. (Pubitemid 44394186)
19. Moulard B, et al. (1998) Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease. Ann Neurol 43:640-644. (Pubitemid 28225556)
20. Veldink JH, et al. (2001) Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 56:749-752. (Pubitemid 32240094)
21. van Es MA, et al. (2007) ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: A genome-wide association study. Lancet Neurol 6:869-877. (Pubitemid 47407791)
22. van Es MA, et al. (2008) Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 40:29-31.
23. Cronin S, et al. (2008) A genome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 17:768-774. (Pubitemid 351292265)
24. Dunckley T, et al. (2007) Whole-genome analysis of sporadic amyotrophic lateral sclerosis. N Engl J Med 357:775-788. (Pubitemid 47295644)
25. Simpson CL, et al. (2009) Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet 18:472-481.
26. Gregory SG, et al. (2007) Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet 39:1083-1091. (Pubitemid 47340652)
27. Lundmark F, et al. (2007) Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nat Genet 39:1108-1113. (Pubitemid 47340654)
28. International Multiple Sclerosis Genetics Consortium (2007) Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 357:851-862. (Pubitemid 47347319)
29. Frayling TM (2007) Genome-wide association studies provide new insights into type 2 diabetes aetiology. Nat Rev Genet 8:657-662. (Pubitemid 47281993)
30. Sladek R, et al. (2007) A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445:881-885. (Pubitemid 46309843)
31. Steinthorsdottir V, et al. (2007) A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nat Genet 39:770-775. (Pubitemid 46848592)
32. Saxena R, et al. (2007) Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science 316:1331-1336. (Pubitemid 46871653)
33. Scott LJ, et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science 316:1341-1345. (Pubitemid 46871655)
34. Zeggini E, et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science 316:1336-1341. (Pubitemid 46871654)
35. Wellcome Trust Case Control Consortium (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678. (Pubitemid 46889737)
36. Skol AD, Scott LJ, Abecasis GR, Boehnke M (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet 38:209-213. (Pubitemid 43177235)
37. Schug J (2003) Using TESS to predict transcription factor binding sites in DNA sequence. In Current Protocols in Bioinformatics, ed Baxevanis A (J. Wiley and Sons, Hoboken, NJ).
38. Kaczynski J, Cook T, Urrutia R (2003) Sp1- and Kruppel-like transcription factors. Genome Biol 4:206. (Pubitemid 36304796)
39. Gottardi CJ, den Elzen NR, Yap AS (2005) When domestiques rebel: Kinesins, cadherins and neuronal proliferation. Nat Cell Biol 7:445-447. (Pubitemid 40637398)
40. Hirokawa N (2000) Stirring up development with the heterotrimeric kinesin KIF3. Traffic 1:29-34.
41. Dupuis L, et al. (2000) Differential screening of mutated SOD1 transgenic mice reveals early up-regulation of a fast axonal transport component in spinal cord motor neurons. Neurobiol Dis 7:274-285.
42. Pantelidou M, et al. (2007) Differential expression of molecular motors in the motor cortex of sporadic ALS. Neurobiol Dis 26:577-589. (Pubitemid 46756325)
43. Tateno M, et al. (2009) Mutant SOD1 impairs axonal transport of choline acetyltransferase and acetylcholine release by sequestering KAP3. Hum Mol Genet 18:942-955.
44. Zhao C, et al. (2001) Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell 105:587-597. (Pubitemid 32524112)
45. Hafezparast M, et al. (2003) Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science 300:808-812. (Pubitemid 36532118)
46. Schymick JC, et al. (2007) Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: First stage analysis and public release of data. Lancet Neurol 6:322-328. (Pubitemid 46367937)
47. Cudkowicz M, et al. (1997) Epidemiology of SOD1mutations in amyotrophic lateral sclerosis. Ann Neurol 41:210-212.
48. Simon-Sanchez J, et al. (2007) Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 16:1-14. (Pubitemid 46152540)