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Author

E. Leonardi

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#protein folding Review Open access Sep 2026

The VHL tumor suppressor at the crossroad of protein folding, aggregation, and cancer

This review addresses the amyloid aggregation of pVHL, the factors contributing to this behavior, the correlation between protein aggregation and cellular dormancy, and potential therapeutic strategies that bridge protein aggregation and oncology.

L. Abad, Silvio C. E. Tosatto, E. Leonardi · 0 citations
Open access Aug 2026

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

It is shown that determining the clinical significance of CHD8 MVs is challenging, even with detailed clinical information, but that incorporating episignature analysis increases diagnostic yield and will improve the diagnosis and understanding of CHD8-related disorders.

Molly Godfrey, Michael A. Levy, Christopher Campbell et al. · 0 citations

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