Functional screening of ZIP8 naturally occurring variants identifies pathogenic mutations and trafficking defects
Michael Nikolovski, Tianqi Wang, Aaron Sue, Keith MacRenaris, Hongyan Zhao, Thomas V. O’Halloran, Jian Hu · 2026
Read Functional screening of ZIP8 naturally occurring variants identifies pathogenic mutations and trafficking defects by Michael Nikolovski, Tianqi Wang, Aaron Sue, Keith MacRenaris, Hongyan Zhao, Thomas V. O’Halloran, Jian Hu (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13671036.txt.
Description
Michael Nikolovski and co-authors present a 2026 study that tests natural variants of a metal-carrying protein called ZIP8, which moves metals such as manganese and zinc into cells. Genome data now lists far more variants than labs can judge one by one. Most variants of this clinically important carrier had never been checked.
The team built a workflow that pairs a laser-based metal reader with scaled-up cell tests. They screened thirty-three natural variants sitting in the part of the protein that faces outside the cell, measuring how much metal each version let in. The screen found disease-linked variants and versions that get stuck on their way to the cell surface.
Catalog record
| CREATOR | Michael Nikolovski, Tianqi Wang, Aaron Sue, Keith MacRenaris, Hongyan Zhao, Thomas V. O’Halloran, Jian Hu |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 44 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |