Author

Sila Hopton

Newcastle upon Tyne Hospitals NHS Foundation Trust

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Karen Lucy StalsiD· 2 shared Lucie S Taylor· 2 shared Robert William TayloriD· 2 shared Adam Szczepanek· 1 shared Agata OliwaiD· 1 shared Akira OhtakeiD· 1 shared Aleksandra FilipovskaiD· 1 shared Alfredo Cabrera‐OreficeiD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Karen Lucy StalsORCID

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2 papers

Recent·Most cited

De novo truncation variants in the low-complexity C-terminal region of XRN1 are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy

Liana N. Semcesen, Lucie S Taylor, Leah E. Frajman, Marisa W. Friederich, Andrew Michael Frey, Stefan J. Siira, Daniella Helena Hock, Tegan L. Stait, Sila Hopton, Yoshihito Kishita, Queenie K.‐G. Tan, Vandana Shashi, Muriel Holder-Espinasse, Hugh A. Lemonde, Kay Metcalfe, , Alison G. Compton

The paper identifies de novo truncating variants in XRN1's C-terminal region causing lethal infantile mitochondrial cardiomyopathy by disrupting its interaction with EDC4.

medRxiv · Jan 11, 2026 · PreprintGenetic & Genomic Medicine

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

Jia Xin Tang, Alfredo Cabrera‐Orefice, Jana Meisterknecht, Lucie S Taylor, Geoffray Monteuuis, Maria Stensland, Adam Szczepanek, Karen Lucy Stals, James E. Davison, Langping He, Sila Hopton, Tuula A. Nyman, Christopher Benjamin Jackson, Angela Pyle, Monika Winter, , 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.

Life Science Alliance · Jan 8, 2025Peer-reviewedGenetic & Genomic Medicine