FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3171783301> ?p ?o ?g. }

• W3171783301 abstract "The essential amino acid tryptophan (TRP) is the initiating metabolite of the kynurenine pathway (KP), which can be upregulated by inflammatory conditions in cells. Neuroinflammation-triggered activation of the KP and excessive production of the KP metabolite quinolinic acid are common features of multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS). In addition to its role in the KP, genes involved in TRP metabolism, including its incorporation into proteins, and synthesis of the neurotransmitter serotonin, have also been genetically and functionally linked to these diseases. ALS is a late onset neurodegenerative disease that is classified as familial or sporadic, depending on the presence or absence of a family history of the disease. Heritability estimates support a genetic basis for all ALS, including the sporadic form of the disease. However, the genetic basis of sporadic ALS (SALS) is complex, with the presence of multiple gene variants acting to increase disease susceptibility and is further complicated by interaction with potential environmental factors. We aimed to determine the genetic contribution of 18 genes involved in TRP metabolism, including protein synthesis, serotonin synthesis and the KP, by interrogating whole-genome sequencing data from 614 Australian sporadic ALS cases. Five genes in the KP (AFMID, CCBL1, GOT2, KYNU, HAAO) were found to have either novel protein-altering variants, and/or a burden of rare protein-altering variants in SALS cases compared to controls. Four genes involved in TRP metabolism for protein synthesis (WARS) and serotonin synthesis (TPH1, TPH2, MAOA) were also found to carry novel variants and/or gene burden. These variants may represent ALS risk factors that act to alter the KP and lead to neuroinflammation. These findings provide further evidence for the role of TRP metabolism, the KP and neuroinflammation in ALS disease pathobiology." @default.
• W3171783301 created "2021-06-22" @default.
• W3171783301 creator A5022147966 @default.
• W3171783301 creator A5022616183 @default.
• W3171783301 creator A5026748817 @default.
• W3171783301 creator A5027336469 @default.
• W3171783301 creator A5034351896 @default.
• W3171783301 creator A5040337684 @default.
• W3171783301 creator A5048648105 @default.
• W3171783301 creator A5054756709 @default.
• W3171783301 creator A5058034368 @default.
• W3171783301 creator A5075562396 @default.
• W3171783301 creator A5083778124 @default.
• W3171783301 creator A5087856014 @default.
• W3171783301 date "2021-06-14" @default.
• W3171783301 modified "2023-09-26" @default.
• W3171783301 title "Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis" @default.
• W3171783301 cites W1547937746 @default.
• W3171783301 cites W1598480899 @default.
• W3171783301 cites W1978388803 @default.
• W3171783301 cites W1984068087 @default.
• W3171783301 cites W1986740990 @default.
• W3171783301 cites W1988691690 @default.
• W3171783301 cites W1990201789 @default.
• W3171783301 cites W2010652292 @default.
• W3171783301 cites W2018021845 @default.
• W3171783301 cites W2020211789 @default.
• W3171783301 cites W2021341670 @default.
• W3171783301 cites W2029465838 @default.
• W3171783301 cites W2061194981 @default.
• W3171783301 cites W2101412130 @default.
• W3171783301 cites W2106156358 @default.
• W3171783301 cites W2116149846 @default.
• W3171783301 cites W2118710734 @default.
• W3171783301 cites W2123779560 @default.
• W3171783301 cites W2132123037 @default.
• W3171783301 cites W2148129638 @default.
• W3171783301 cites W2159568556 @default.
• W3171783301 cites W2161938104 @default.
• W3171783301 cites W2256016639 @default.
• W3171783301 cites W2299985741 @default.
• W3171783301 cites W2322232345 @default.
• W3171783301 cites W2411156168 @default.
• W3171783301 cites W2435147064 @default.
• W3171783301 cites W2521967673 @default.
• W3171783301 cites W2561724945 @default.
• W3171783301 cites W2571835281 @default.
• W3171783301 cites W2585584183 @default.
• W3171783301 cites W2600578427 @default.
• W3171783301 cites W2753430298 @default.
• W3171783301 cites W2782424591 @default.
• W3171783301 cites W2790981504 @default.
• W3171783301 cites W2883293692 @default.
• W3171783301 cites W2896971038 @default.
• W3171783301 cites W2915925525 @default.
• W3171783301 cites W2944463628 @default.
• W3171783301 cites W2953216035 @default.
• W3171783301 cites W2963484270 @default.
• W3171783301 cites W2971359736 @default.
• W3171783301 cites W2971482878 @default.
• W3171783301 cites W3002728042 @default.
• W3171783301 cites W3015372504 @default.
• W3171783301 cites W3025879039 @default.
• W3171783301 cites W3149315539 @default.
• W3171783301 cites W4210998205 @default.
• W3171783301 doi "https://doi.org/10.3389/fimmu.2021.701550" @default.
• W3171783301 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8236844" @default.
• W3171783301 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34194442" @default.
• W3171783301 hasPublicationYear "2021" @default.
• W3171783301 type Work @default.
• W3171783301 sameAs 3171783301 @default.
• W3171783301 citedByCount "6" @default.
• W3171783301 countsByYear W31717833012022 @default.
• W3171783301 countsByYear W31717833012023 @default.
• W3171783301 crossrefType "journal-article" @default.
• W3171783301 hasAuthorship W3171783301A5022147966 @default.
• W3171783301 hasAuthorship W3171783301A5022616183 @default.
• W3171783301 hasAuthorship W3171783301A5026748817 @default.
• W3171783301 hasAuthorship W3171783301A5027336469 @default.
• W3171783301 hasAuthorship W3171783301A5034351896 @default.
• W3171783301 hasAuthorship W3171783301A5040337684 @default.
• W3171783301 hasAuthorship W3171783301A5048648105 @default.
• W3171783301 hasAuthorship W3171783301A5054756709 @default.
• W3171783301 hasAuthorship W3171783301A5058034368 @default.
• W3171783301 hasAuthorship W3171783301A5075562396 @default.
• W3171783301 hasAuthorship W3171783301A5083778124 @default.
• W3171783301 hasAuthorship W3171783301A5087856014 @default.
• W3171783301 hasBestOaLocation W31717833011 @default.
• W3171783301 hasConcept C104317684 @default.
• W3171783301 hasConcept C126322002 @default.
• W3171783301 hasConcept C170493617 @default.
• W3171783301 hasConcept C180754005 @default.
• W3171783301 hasConcept C2775864247 @default.
• W3171783301 hasConcept C2776706248 @default.
• W3171783301 hasConcept C2776710720 @default.
• W3171783301 hasConcept C2777503454 @default.
• W3171783301 hasConcept C2779134260 @default.
• W3171783301 hasConcept C2779999352 @default.
• W3171783301 hasConcept C2780596555 @default.
• W3171783301 hasConcept C37000724 @default.

• next