Author

Laura Gonzalez-Trueba

University of Glasgow

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Genetics· 1

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Approach:experimental assay· 1 Organism:human· 1

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Alison M. MichieiD· 1 shared Fransiska MalfaitiD· 1 shared Jennifer E. Cassels· 1 shared Malak A Ammar· 1 shared Michelle LeeiD· 1 shared Neil John BulleidiD· 1 shared Ramla Omar· 1 shared Snoopy Hazarika· 1 shared

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2024-2024 · peak 1/yr

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1 shared paperGenetics

Alison M. MichieORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintJun 20, 2024

The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

Ramla Omar, Michelle Lee, Laura Gonzalez-Trueba…·Tom Van Agtmael

This study shows that 4-phenylbutyric acid rescues molecular defects in COL3A1 mutations causing vEDS by reducing ER stress and improving collagen secretion.

2 citations

humanexperimental assay

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