Protein Structure, Molecular Mechanisms and Human Genetic Disease: Beyond the Loss-of-function Paradigm

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Deliverables

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Publications

ALDH1A3-acetaldehyde metabolism potentiates transcriptional heterogeneity in melanoma

Author(s): Yuting Lu, Jana Travnickova, Mihaly Badonyi, Florian Rambow, Andrea Coates, Zaid Khan, Jair Marques, Laura C. Murphy, Pablo Garcia-Martinez, Richard Marais, Pakavarin Louphrasitthiphol, Alex H.Y. Chan, Christopher J. Schofield, Alex von Kriegsheim, Joseph A. Marsh, Valeria Pavet, Owen J. Sansom, Robert S. Illingworth, E. Elizabeth Patton
Published in: Cell Reports, Issue 43, 2024, Page(s) 114406, ISSN 2211-1247
Publisher: Cell Press
DOI: 10.1016/j.celrep.2024.114406

Structural insight into the function of human peptidyl arginine deiminase 6

Author(s): Jack P.C. Williams, Stephane Mouilleron, Rolando Hernandez Trapero, M. Teresa Bertran, Joseph A. Marsh, Louise J. Walport
Published in: Computational and Structural Biotechnology Journal, Issue 23, 2024, Page(s) 3258-3269, ISSN 2001-0370
Publisher: Elsevier
DOI: 10.1016/j.csbj.2024.08.019

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

Author(s): Mihaly Badonyi, Joseph A. Marsh
Published in: PLOS ONE, Issue 19, 2024, Page(s) e0307312, ISSN 1932-6203
Publisher: Public Library of Science
DOI: 10.1371/journal.pone.0307312

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

Author(s): Lukas Gerasimavicius, Benjamin J Livesey, Joseph A Marsh
Published in: Nature Communications, 2022, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-022-31686-6

Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants

Author(s): Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Published in: Molecular Systems Biology, 2023, ISSN 1744-4292
Publisher: Nature Publishing Group
DOI: 10.1101/2023.07.25.550478

Buffering of genetic dominance by allele-specific protein complex assembly

Author(s): Mihaly Badonyi, Joseph A Marsh
Published in: Science Advances, Issue 9, 2023, Page(s) eadf9845, ISSN 2375-2548
Publisher: American Association for the Advancement of Science
DOI: 10.1126/sciadv.adf9845

Correspondence between functional scores from deep mutational scans and predicted effects on protein stability

Author(s): Lukas Gerasimavicius, Benjamin J. Livesey, Joseph A. Marsh
Published in: Protein Science, Issue 32, 2023, Page(s) e4688, ISSN 1469-896X
Publisher: Wiley
DOI: 10.1002/pro.4688

Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus

Author(s): Clémence David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian I. Rice, Blaise Didry-Barca, Lucie Maisonneuve, Luis Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, Carle Paul, Gulshan Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bade
Published in: Journal of Experimental Medicine, Issue 221, 2024, ISSN 0022-1007
Publisher: Rockefeller University Press
DOI: 10.1084/jem.20232066

Updated benchmarking of variant effect predictors using deep mutational scanning

Author(s): Benjamin J Livesey, Joseph A Marsh
Published in: Molecular Systems Biology, Issue 19, 2023, Page(s) e11474, ISSN 1744-4292
Publisher: Nature Publishing Group
DOI: 10.15252/msb.202211474

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