Generically Dependent Continuant
type: Class

Article
type: Class

Medical Research Council, MRC: MC_G1000733, G0900688, G0600974, G0500289
type: Relationship
type: BFO_0000020
type: Entity
type: Thing
type: Grant
type: Continuant
funding vehicle for: Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
type: Information Content Entity
most specific type: Article
has publication venue: Proceedings of the National Academy of Sciences of the United States of America
related by: authorship_13683
related by: authorship_13684
estado: published
related by: authorship_13688
related by: authorship_13670
related by: authorship_13671
related by: authorship_13660
type: Entity
related by: authorship_13664
related by: authorship_13690
doi: 10.1073/pnas.0812937106
related by: authorship_13691
related by: authorship_13694
has funding vehicle: National Center for Research Resources, NCRR: U54RR020278
related by: authorship_13695
most specific type: Document
related by: authorship_13669
type: Document
page end: 9009
type: Article
abstract: Amyotrophic lateral sclerosis is a degenerative disorder of motor neurons that typically develops in the 6th decade and is uniformly fatal, usually within 5 years. To identify genetic variants associated with susceptibility and phenotypes in sporadic ALS, we performed a genome-wide SNP analysis in sporadic ALS cases and controls. A total of 288,357 SNPs were screened in a set of 1,821 sporadic ALS cases and 2,258 controls from the U.S. and Europe. Survival analysis was performed using 1,014 deceased sporadic cases. Top results for susceptibility were further screened in an independent sample set of 538 ALS cases and 556 controls. SNP rs1541160 within the KIFAP3 gene (encoding a kinesin-associated protein) yielded a genomewide significant result (P = 1.84 × 10 -8) that withstood Bonferroni correction for association with survival. Homozygosity for the favorable allele (CC) conferred a 14.0 months survival advantage. Sequence, genotypic and functional analyses revealed that there is linkage disequilibrium between rs1541160 and SNP rs522444 within the KIFAP3 promoter and that the favorable alleles of rs1541160 and rs522444 correlate with reduced KIFAP3 expression. No SNPs were associated with risk of sporadic ALS, site of onset, or age of onset. We have identified a variant within the KIFAP3 gene that is associated with decreased KIFAP3 expression and increased survival in sporadic ALS. These findings support the view that genetic factors modify phenotypes in this disease and that cellular motor proteins are determinants of motor neuron viability.
related by: authorship_13681
related by: authorship_13682
accesstype: All Open Access, Bronze, Green
issue: 22
chemicalscas: protein, 67254-75-5; Adaptor Proteins, Signal Transducing; Cytoskeletal Proteins; KIFAP3 protein, human
date time value: article date 2302
related by: authorship_13687
type: Continuant
related by: authorship_13692
related by: authorship_13693
related by: authorship_13674
related by: authorship_13675
related by: authorship_13663
origen: scopus
related by: authorship_13678
related by: authorship_13679
related by: authorship_13667
related by: authorship_13668
type: Generically Dependent Continuant
volume: 106
related by: authorship_13698
related by: authorship_13699
related by: authorship_13702
related by: authorship_13703
molecularseqnum: GENBANK: FLJ10986
related by: authorship_13680
freetext keyword: Genome-wide association study; Single nucleotide polymorphism 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
crisid: 2302
related by: authorship_13685
related by: authorship_13686
related by: authorship_13689
related by: authorship_13672
pmid: 19451621
related by: authorship_13673
related by: authorship_13661
related by: authorship_13676
related by: authorship_13662
related by: authorship_13677
related by: authorship_13665
e iscopus: 2-s2.0-67049155508
related by: authorship_13666
type: Thing
related by: authorship_13696
related by: authorship_13697
page start: 9004
related by: authorship_13700
related by: authorship_13701
has funding vehicle: Medical Research Council, MRC: MC_G1000733, G0900688, G0600974, G0500289
related by: authorship_13658
related by: authorship_13659

Proceedings of the National Academy of Sciences of the United States of America
type: Periodical
type: Journal
publication venue for: Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
type: Collection
type: Thing
type: Document
type: Generically Dependent Continuant
type: Entity
type: Continuant
type: Information Content Entity

Information Content Entity
type: Class

Entity
type: Class

National Center for Research Resources, NCRR: U54RR020278
type: Relationship
type: BFO_0000020
type: Entity
type: Thing
type: Grant
type: Continuant
funding vehicle for: Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

RDF description of Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis - http://orbis.uaslp.mx/vivo/individual/scopus2301
rights: termsOfUse
date: 2026-08-24T21:51:03
publisher: vivo
type: Document

Document
type: Class

Continuant
type: Class