Author

Stefania Della Vecchia

Fondazione Stella MarisORCID 0000-0002-2066-2162Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Approach:experimental assay· 2 Organism:mouse· 2 Approach:biophysical modeling· 1 Research Focus:cell type annotation· 1 Research Focus:drug response / drug discovery· 1 Approach:genetic perturbation / CRISPR· 1 Organism:human· 1

Frequent Co-Authors

Filippo Maria SantorelliiD· 2 shared Maria MarcheseiD· 2 shared Albert KoulmaniD· 1 shared Andrew M. JamesiD· 1 shared Angela SchulziD· 1 shared Antti M. SaloiD· 1 shared Benjamin JenkinsiD· 1 shared Chak Shun YuiD· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersBiochemistry

Filippo Maria SantorelliORCID

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2 papers

Recent·Most cited

Stereospecific GPG acylation by CLN8 drives BMP biosynthesis and its loss leads to Batten disease

Pradeep Kumar Sheokand, Denis Lacabanne, Andrew M. James, Stefania Della Vecchia, Jonathan J. Ruprecht, Joris van der Kleij, Keira Turner, Jessica Müller-Niva, Antti M. Salo, Benjamin Jenkins, Susannah K. Leese, Nidhi Juneja, Chak Shun Yu, Clarissa D. Booth, Martin S. King, , Kasparas Petkevicius

This study identifies CLN8 as a stereospecific GPG acyltransferase critical for BMP biosynthesis, showing its loss causes Batten disease and that S,S-LPG supplementation can restore BMP and improve neurological symptoms.

Nature Cell Biology · Sep 15, 2026Peer-reviewedBiochemistry

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease

Eshaan S. Rawat, Nick Manfred, Hisham N. Alsohybe, Wentao Dong, Isabelle V. Peña, Maryam Idris, Christian Posern, Lena Marie Westermann, Samantha J. Murray, Daan M. Panneman, Stefania Della Vecchia, Stefano Doccini, Maria Marchese, Filippo Maria Santorelli, Peter M. van Hasselt, , Monther Abu-Remaileh

This study identifies BMP and LPG as biomarkers for CLN5 Batten disease using lipidomics, showing their depletion and elevation in disease models and patient samples.

bioRxiv · Mar 21, 2026 · PreprintCell Biology