Article

The schizophrenia-associated variant in <i>SLC39A8</i> alters N-glycosylation in the mouse brain

2020-12-23

Abstract excerpt

A missense mutation (A391T) in the manganese transporter SLC39A8 is strongly associated with schizophrenia in genomic studies, though the molecular connection to the brain remains hypothetical. Human carriers of A391T have reduced serum manganese, altered plasma glycosylation, and brain MRI changes consistent with altered metal transport. Here, using a knock-in mouse model homozygous for A391T, we show that the s...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: b51372a9-4da5-5b7c-97a3-580f035a2bee
DOI: 10.1101/2020.12.22.424076

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The schizophrenia-associated variant in <i>SLC39A8</i> alters N-glycosylation in the mouse brainDOI 10.1101/2020.12.22.424076Read

The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylationSemantic proximity Read

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.Semantic proximity Read

Pleiotropic ZIP8 A391T implicates abnormal manganese homeostasis in complex human disease.Semantic proximity Read

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.Semantic proximity Read

Aberrant N-glycosylation is a therapeutic target in carriers of a common and highly pleiotropic mutation in the manganese transporter ZIP8Semantic proximity Read

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of <i>SLC35A2</i> -associated epilepsySemantic proximity Read

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.Semantic proximity Read

Reduced Slc1a1 expression is associated with neuroinflammation and impaired sensorimotor gating and cognitive performance in mice: Implications for schizophrenia.Semantic proximity Read

The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia.Semantic proximity Read

A humanized neuronal model system reveals key roles for manganese in neuronal endocytosis, calcium flux and mitochondrial bioenergeticsSemantic proximity Read

A missense variant in SLC39A8 confers risk for Crohn's disease by disrupting manganese homeostasis and intestinal barrier integrity.Semantic proximity Read

Schizophrenia-associated SLC39A8 polymorphism is a loss-of-function allele altering glutamate receptor and innate immune signaling.Semantic proximity Read