Associated Papers
Systematic analysis of naturally occurring missense mutations in human manganese transporters: prediction and structural insights.
Hu R et al.
Biorxiv : the Preprint Server for Biology, 2025
Loss of hepatic manganese transporter ZIP8 disrupts serum transferrin glycosylation and the glutamate-glutamine cycle.
Powers M et al.
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
In vitro studies of manganese transport and homeostasis.
Kim S et al.
Methods in Enzymology, 2023
Effects of individual amino acid mutations of zinc transporter ZIP8 on manganese- and cadmium-transporting activity.
Fujishiro H et al.
Biochemical and Biophysical Research Communications, 2022
The Impact of ZIP8 Disease-Associated Variants G38R, C113S, G204C, and S335T on Selenium and Cadmium Accumulations: The First Characterization.
Liang ZL et al.
International Journal of Molecular Sciences, 2021
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
Bonaventura E et al.
Orphanet Journal of Rare Diseases, 2021
[Roles of Zinc Transporters That Control the Essentiality and Toxicity of Manganese and Cadmium].
Himeno S et al.
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2021
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Park JH et al.
Journal of Inherited Metabolic Disease, 2020
The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation.
Mealer RG et al.
Scientific Reports, 2020
The Functions of ZIP8, ZIP14, and ZnT10 in the Regulation of Systemic Manganese Homeostasis.
Winslow JWW et al.
International Journal of Molecular Sciences, 2020
Pathway paradigms revealed from the genetics of inflammatory bowel disease.
Graham DB et al.
Nature, 2020
SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside.
Nebert DW et al.
Human Genomics, 2019
Genetic Disorders of Manganese Metabolism.
Anagianni S et al.
Current Neurology and Neuroscience Reports, 2019
The highly pleiotropic gene SLC39A8 as an opportunity to gain insight into the molecular pathogenesis of schizophrenia.
Costas J
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.
Choi EK et al.
Scientific Reports, 2018
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.
Park JH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Molecular and pathophysiological aspects of metal ion uptake by the zinc transporter ZIP8 (SLC39A8).
Zang ZS et al.
Toxicology Research, 2016
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
Park JH et al.
American Journal of Human Genetics, 2015