Author

Louise J. Gourlay

University of MilanORCID 0000-0002-6369-2230Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Biochemistry· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 1 Research Focus:protein structure prediction· 1 Assay:structural biology· 1

Frequent Co-Authors

Alberto Giuseppe BarbiroliiD· 2 shared Marco NardiniiD· 2 shared Rosaria RussoiD· 2 shared Amirsadra AhmadiiD· 1 shared Amit KumawatiD· 1 shared Anna Righetti· 1 shared Antonio Chaves-SanjuániD· 1 shared Ben CocanougheriD· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alberto Giuseppe BarbiroliORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJul 19, 2026

NFIX missense variants that disrupt the β-hairpin loop result in a severe form of Malan syndrome in adolescence with rapidly evolving scoliosis and muscle wasting

Christal G. Delagrammatikas, Louise J. Gourlay, Manuela Priolo…·Ben Cocanougher

The paper identifies severe NFIX missense variants causing a subtype of Malan syndrome with progressive musculoskeletal issues and shows variant-specific DNA-binding disruptions.

DOI 10.64898/2026.07.16.26357549

humanexperimental assay

𝕏 PostBluesky

BiochemistrybioRxivPreprintMar 21, 2025

Structural bases for Nuclear Factor 1-X activation and DNA recognition. Prototypic insight into the NFI transcription factor family

Michele Tiberi, Michela Lapi, Louise J. Gourlay…·Marco Nardini

This study presents the first structural characterization of NFI-X, revealing its DNA-binding domain structure and key determinants for activity, providing a framework for understanding the NFI family's function and drug design.

1 citation

structural biologyexperimental assay

𝕏 PostBluesky