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Author

Aaron Sue

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Open access May 2026

Functional screening of ZIP8 naturally occurring variants identifies pathogenic mutations and trafficking defects

The rapid expansion of human genomic data has revealed a large number of naturally occurring variants, creating a major challenge for functional annotation. The human metal transporter SLC39A8 (ZIP8) is a clinically important, promiscuous divalent metal transporter, yet most of its documented variants remain uncharacte...

Michael Nikolovski, Tian-Qi Wang, Aaron Sue et al. · 0 citations
Open access Sep 2026

Functional screening of ZIP8 naturally occurring variants identifies pathogenic mutations and trafficking defects

A workflow to functionally evaluate ZIP8 variants by integrating laser ablation inductively coupled plasma time-of-flight mass spectrometry with scaled-up cell-based transport assays is developed and provides new insights into the structure-function relationships of ZIP8.

Michael Nikolovski, Tian-Qi Wang, Aaron Sue et al. · 0 citations

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