Author

Alejandro Varela‐Rial

Acellera (Spain)ORCID 0000-0002-6918-1765Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Assay:protein structure· 1 Research Focus:protein structure prediction· 1 Approach:simulation· 1 Approach:statistical model· 1

Frequent Co-Authors

Anna CroisiD· 1 shared Dierk NiessingiD· 1 shared Dorothee DormanniD· 1 shared Elisa DonatiiD· 1 shared Gianni De FabritiisiD· 1 shared Hyun-Seo KangiD· 1 shared Jana Tretter· 1 shared Lena MolitoriD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperMolecular Biology

Anna CroisORCID

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1 paper

Recent·Most cited

PURA Syndrome-causing mutations impair PUR-domain integrity and affect P-body association

Marcel Proske, Robert Janowski, Sabrina Bacher, Hyun-Seo Kang, Thomas Monecke, Tony Köhler, Saskia Hutten, Jana Tretter, Anna Crois, Lena Molitor, Alejandro Varela‐Rial, Roberto Fino, Elisa Donati, Gianni De Fabritiis, Dorothee Dormann, , Dierk Niessing

This study shows that PURA syndrome mutations disrupt PURA's structure and P-body association, explaining full penetrance of the disease.

eLife · Jan 24, 2024Peer-reviewedMolecular Biology