Associated Papers
An iPSC-derived neuronal model reveals manganese's role in neuronal endocytosis, calcium flux and mitochondrial bioenergetics.
Budinger D et al.
Iscience, 2025
In vitro studies of manganese transport and homeostasis.
Kim S et al.
Methods in Enzymology, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
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
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Park JH et al.
Journal of Inherited Metabolic Disease, 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
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
New Insights into the Roles of ZIP8, a Cadmium and Manganese Transporter, and Its Relation to Human Diseases.
Fujishiro H et al.
Biological & Pharmaceutical Bulletin, 2019
Functional analysis of SLC39A8 mutations and their implications for manganese deficiency and mitochondrial disorders.
Choi EK et al.
Scientific Reports, 2018
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.
Riley LG et al.
Journal of Inherited Metabolic Disease, 2017
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