Author

Adam Szczepanek

University of Newcastle Australia

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 1 Organism:human· 1

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Alfredo Cabrera‐OreficeiD· 1 shared Angela PyleiD· 1 shared Christopher Benjamin JacksoniD· 1 shared Geoffray MonteuuisiD· 1 shared Ilka WittigiD· 1 shared James E. DavisoniD· 1 shared Jana Meisterknecht· 1 shared Jia Xin Tang· 1 shared

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1 paper

Recent·Most cited

Genetic & Genomic MedicineLife Science AlliancePeer-reviewedJan 8, 2025

COA5 has an essential role in the early stage of mitochondrial complex IV assembly

Jia Xin Tang, Alfredo Cabrera‐Orefice, Jana Meisterknecht…·Robert William Taylor

The paper identifies a COA5 missense variant causing isolated mitochondrial complex IV assembly impairment in two siblings and validates its role in early CIV assembly using patient-derived cells and CRISPR/Cas9 knockout models.

6 citations

humanexperimental assay

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