Author

Mark Holt

King's College LondonORCID 0000-0001-7775-8539Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Cell Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:development & morphogenesis· 1 Research Focus:differential expression· 1 Research Focus:host-pathogen & immune response· 1 Organism:mouse· 1 Assay:proteomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Mathias GauteliD· 2 shared Xiaoping YangiD· 2 shared Adele D’AmicoiD· 1 shared Ailbhe O Brien· 1 shared Aishwarya Dhall· 1 shared Ajay M. ShahiD· 1 shared Alan H. BeggsiD· 1 shared Alessandro MussaiD· 1 shared

Activity by Year

2025-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 25 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Mathias GautelORCID

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3 papers

Recent·Most cited

A comprehensive framework for the interpretation of TTN missense variants

Maria Francesca Di Feo, Martin Rees, Victoria Lillback, Ay Lin Kho, Angelina Meybatova, Mark Holt, Heinz Jungbluth, Francesco Muntoni A, Giovanni Baranello, Anna Sárközy, Chiara Fiorillo, Serena Baratto, Claudio Bruno, Monica Traverso, Michele Iacomino, , Marco Savarese

The paper presents a framework for interpreting TTN missense variants by integrating clinical, computational, and functional evidence, identifying two variants as likely pathogenic.

Genome Medicine · Feb 26, 2026Peer-reviewedGenetic & Genomic Medicine

Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (ttn.2) Variants

Celine F. Santiago, Inken G. Huttner, Ailbhe O Brien, Melissa A. B. Amerudin, Pauline M. Bennett, Jasmina Cvetkovska, Renee Chand, Mark Holt, Gunjan Trivedi, Louis W. Wang, Xiaoping Yang, Kelly Smith, Mathias Gautel, Diane Fatkin, Yaniv Hinits

This study investigates how truncating variants in the ttn.2 gene affect cardiac and skeletal muscle function in zebrafish, showing location-specific differences in disease severity and phenotypes.

Circulation Research · Jan 7, 2026Peer-reviewedCell Biology

Targeting C42 in PKGIα alleviates diastolic dysfunction in HFpEF

Jie Su, Min Zhang, Xiaoping Yang, Mark Holt, Janice Raabe, Friederike Cuello, Ajay M. Shah, Michael J. Shattock, Joseph Robert Burgoyne

This study shows that targeting C42 in PKGI with urolithin A reduces diastolic dysfunction and cardiac remodeling in a mouse model of HFpEF and improves heart tissue function in humans.

bioRxiv · May 9, 2025 · PreprintBiochemistry