Matches in SemOpenAlex for { <https://semopenalex.org/work/W3047304785> ?p ?o ?g. }
- W3047304785 abstract "Abstract A common missense variant in SLC39A8 is convincingly associated with schizophrenia and several additional phenotypes. Homozygous loss-of-function mutations in SLC39A8 result in undetectable serum manganese (Mn) and a Congenital Disorder of Glycosylation (CDG) due to the exquisite sensitivity of glycosyltransferases to Mn concentration. Here, we identified several Mn-related changes in human carriers of the common SLC39A8 missense allele. Analysis of structural brain MRI scans showed a dose-dependent change in the ratio of T2w to T1w signal in several regions. Comprehensive trace element analysis confirmed a specific reduction of only serum Mn, and plasma protein N-glycome profiling revealed reduced complexity and branching. N-glycome profiling from two individuals with SLC39A8-CDG showed similar but more severe alterations in branching that improved with Mn supplementation, suggesting that the common variant exists on a spectrum of hypofunction with potential for reversibility. Characterizing the functional impact of this variant will enhance our understanding of schizophrenia pathogenesis and identify novel therapeutic targets and biomarkers." @default.
- W3047304785 created "2020-08-10" @default.
- W3047304785 creator A5007040432 @default.
- W3047304785 creator A5023341393 @default.
- W3047304785 creator A5027397904 @default.
- W3047304785 creator A5032711494 @default.
- W3047304785 creator A5044998046 @default.
- W3047304785 creator A5053290894 @default.
- W3047304785 creator A5053626123 @default.
- W3047304785 creator A5055045192 @default.
- W3047304785 creator A5058161768 @default.
- W3047304785 creator A5058239570 @default.
- W3047304785 creator A5061833203 @default.
- W3047304785 creator A5064373888 @default.
- W3047304785 creator A5073044601 @default.
- W3047304785 creator A5078952644 @default.
- W3047304785 creator A5087774736 @default.
- W3047304785 date "2020-08-04" @default.
- W3047304785 modified "2023-10-12" @default.
- W3047304785 title "The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation" @default.
- W3047304785 cites W145329232 @default.
- W3047304785 cites W1528879928 @default.
- W3047304785 cites W1555498725 @default.
- W3047304785 cites W1817978154 @default.
- W3047304785 cites W1969043349 @default.
- W3047304785 cites W1975068341 @default.
- W3047304785 cites W1989066796 @default.
- W3047304785 cites W2001567949 @default.
- W3047304785 cites W2006481826 @default.
- W3047304785 cites W2018454041 @default.
- W3047304785 cites W2024422626 @default.
- W3047304785 cites W2032656951 @default.
- W3047304785 cites W2038856323 @default.
- W3047304785 cites W2049149162 @default.
- W3047304785 cites W2055714135 @default.
- W3047304785 cites W2064222888 @default.
- W3047304785 cites W2074435779 @default.
- W3047304785 cites W2082704080 @default.
- W3047304785 cites W2092411608 @default.
- W3047304785 cites W2100891226 @default.
- W3047304785 cites W2101357408 @default.
- W3047304785 cites W2101605059 @default.
- W3047304785 cites W2105281057 @default.
- W3047304785 cites W2112390338 @default.
- W3047304785 cites W2113892605 @default.
- W3047304785 cites W2115801316 @default.
- W3047304785 cites W2117821054 @default.
- W3047304785 cites W2120019026 @default.
- W3047304785 cites W2126779745 @default.
- W3047304785 cites W2130915126 @default.
- W3047304785 cites W2131247679 @default.
- W3047304785 cites W2133990480 @default.
- W3047304785 cites W2135675873 @default.
- W3047304785 cites W2140079333 @default.
- W3047304785 cites W2147311167 @default.
- W3047304785 cites W2154100133 @default.
- W3047304785 cites W2161527180 @default.
- W3047304785 cites W2172159160 @default.
- W3047304785 cites W2181502677 @default.
- W3047304785 cites W2187897300 @default.
- W3047304785 cites W2206645348 @default.
- W3047304785 cites W2238271553 @default.
- W3047304785 cites W2287637564 @default.
- W3047304785 cites W2335998137 @default.
- W3047304785 cites W2401811918 @default.
- W3047304785 cites W2504926893 @default.
- W3047304785 cites W2520704601 @default.
- W3047304785 cites W2560268293 @default.
- W3047304785 cites W2566437338 @default.
- W3047304785 cites W2610163363 @default.
- W3047304785 cites W2618782704 @default.
- W3047304785 cites W2748743874 @default.
- W3047304785 cites W2765657625 @default.
- W3047304785 cites W2765845687 @default.
- W3047304785 cites W2782012582 @default.
- W3047304785 cites W2783685107 @default.
- W3047304785 cites W2789514637 @default.
- W3047304785 cites W2789566970 @default.
- W3047304785 cites W2789817298 @default.
- W3047304785 cites W2793939068 @default.
- W3047304785 cites W2794565736 @default.
- W3047304785 cites W2797287285 @default.
- W3047304785 cites W2803897372 @default.
- W3047304785 cites W2820006500 @default.
- W3047304785 cites W2890422929 @default.
- W3047304785 cites W2895170936 @default.
- W3047304785 cites W2895693082 @default.
- W3047304785 cites W2901303766 @default.
- W3047304785 cites W2905343767 @default.
- W3047304785 cites W2908578463 @default.
- W3047304785 cites W2912056794 @default.
- W3047304785 cites W2947306452 @default.
- W3047304785 cites W2955017511 @default.
- W3047304785 cites W2972705331 @default.
- W3047304785 cites W2977265011 @default.
- W3047304785 cites W3012380876 @default.
- W3047304785 cites W3014806942 @default.
- W3047304785 cites W3023891836 @default.
- W3047304785 cites W3024849208 @default.
- W3047304785 cites W4241074797 @default.