Author

John H. Perryman

Mercy Health

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Cell Biology· 1

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Research Focus:cell signaling & trafficking· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:protein folding & dynamics· 1 Assay:proteomics· 1

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Jing‐Qiong KangiD· 1 shared Marnie P WilliamsiD· 1 shared Ting-Wei MuiD· 1 shared Yajuan WangiD· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperCell Biology

Jing‐Qiong KangORCID

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Recent·Most cited

GABRA1 frameshift variants impair GABAA receptor proteostasis

Marnie P Williams, Yajuan Wang, Jing‐Qiong Kang, John H. Perryman, Ting-Wei Mu

This study examines four GABRA1 frameshift variants, showing they reduce GABAAR subunit trafficking and impair proteostasis, with varying severity based on transmembrane domain deletions.

bioRxiv · Nov 28, 2024 · PreprintCell Biology