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Functional Characterisation of a GWAS Risk Locus Identifies <i>GPX3</i> as a Lead Candidate Gene in ALS

https://doi.org/10.2139/ssrn.3741233
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32/32 checkable references clean · checked 2026-09-14

Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.

20 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.

The 32 checked references that resolve
resolves10.1038/nature20413
Decoding ALS: from genes to mechanism
resolves10.1212/nxg.0000000000000398
ALS in Danish Registries
resolves10.1038/ng.3622
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
resolves10.1038/s41467-017-00471-1
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
resolves10.1038/ng.3211
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
resolves10.1038/ng.3955
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci
resolves10.1038/ncomms14774
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
resolves10.1038/ng.3626
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
resolves10.1016/j.neuron.2018.02.027
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
resolves10.1038/s42003-020-01251-2
A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis
resolves10.1016/j.neuron.2011.09.011
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
resolves10.1016/j.neuron.2011.09.010
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
resolves10.1038/nn.3801
Genetic variability in the regulation of gene expression in ten regions of the human brain
resolves10.1038/nature22366
Architecture of the human interactome defines protein communities and disease networks
resolves10.1038/s41586-020-2188-x
A reference map of the human binary protein interactome
resolves10.1007/springerreference_34776
Conserved Synteny
resolves10.7554/elife.42341.008
Figure 4. CTCF Ser224-P occupies a fraction of CTCF sites outside of pericentric chromatin in interphase.
resolves10.7554/elife.23203.020
Figure 2—figure supplement 13. GpC methylation correlates with DHS peaks scores in individual cells.
resolves10.7554/elife.34077.018
Figure 4—figure supplement 1. Characteristics of five classes of DHS in mouse liver.
resolves10.1007/3-540-29623-9_6908
Enhancer Trap
resolves10.7717/peerj.7657/fig-3
Figure 3: Fine-scale enhancer-enhancer interactions predicted by EnContact.
resolves10.7554/elife.21728.008
Figure 2—figure supplement 1. Heatmap illustrating the relationship between H3K27ac and replication origins.
resolves10.7554/elife.29550.014
Figure 3—figure supplement 4. Genomic signals around H3K4me1 peaks.
resolves10.7554/elife.40364.017
Figure 4—source data 3. H3K4me1 ChIP in hMScs.
resolves10.7554/elife.24133.018
Figure 4—figure supplement 4. Higher observed recombination rate at testis-specific H3K4me3 peaks than liver-specific H3K4me3 peaks.
resolves10.7554/elife.34970.018
Figure 6—figure supplement 5. SET-9 and SET-26 bind to H3K4me3 in vivo (part 2).
resolves10.7554/elife.43362.016
Video 1. Co-localization of H3K9ac and LISP2.
resolves10.18258/2814
Sustainable Next Generation Biofuel Production
resolves10.7554/elife.29005.023
Figure 6—figure supplement 4. Bithoraxoid locus.
resolves10.1036/1097-8542.yb130062
Repressed memories
resolves10.7554/elife.45672.012
Figure 5—figure supplement 1. Intersection of LA peaks with hESC enhancer sets.
resolves10.4016/46492.01
Tip of the Week: TFBS using Mapper
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no DOI — not checkedThe change in ALSFRS-R in months since first visit identified a linear decrease of 0.54 points (0.42-0.66 95% CI, p value = 7.2 x 10 -17 ) B. The change in ALSFRS-R in months since diagnosis was 0.10 (0.034-0.17 95% CI, p value = 2.8 x 10 -16 ) (x-axis is limited to 50 to improve detail of graph for majority of cohort) C. The GPX3 level in months since first visit did not identify any common change across visits (-7.44 (-53.5 -38.6 95% CI)) D. There was also no common change in GPX3 level across visits in months since diagnosis
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