Author

Marialetizia Motta

Bambino Gesù Children's HospitalORCID 0000-0001-6592-910XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cancer Biology· 1 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Approach:simulation· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Andrea CiolfiiD· 2 shared Marco TartagliaiD· 2 shared Alastair DroopiD· 1 shared Alban C. ZiegleriD· 1 shared Albrecht StenzingeriD· 1 shared Alexander P.A. StegmanniD· 1 shared Alice GoldenbergiD· 1 shared Anita M. RauchiD· 1 shared

Activity by Year

2023-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersCancer Biology

Andrea CiolfiORCID

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2 papers

Recent·Most cited

Activation of Wnt/β-catenin signalling by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary gland basal cell adenoma

Kim Wong, Justin A. Bishop, Ilan Weinreb, Marialetizia Motta, Martin Del Castillo Velasco‐Herrera, Emanuele Bellacchio, Ingrid Ferreira, Louise van der Weyden, Jacqueline Marcia Boccacino, Antonella Lauri, Giovannina Rotundo, Andrea Ciolfi, Saamin Cheema, Rebeca Olvera-León, Victoria Offord, , David J. Adams

Exome and transcriptome sequencing of salivary basal cell adenomas reveals a recurrent FBXW11 p.F517S mutation, exclusive with CTNNB1 p.I35T, together accounting for 94% of cases.

Nature Communications · May 19, 2025Peer-reviewedCancer Biology✦ In-depth digest

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert, Tuula Rinne, Isabelle Thiffault, Michele Rapp, Mariel Alders, Saskia M. Maas, Bénédicte Gérard, Thomas Smol, Catherine Vincent‐Delorme, Benjamin Cogné, , Tianyun Wang

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

medRxiv · Jun 13, 2023 · PreprintGenetic & Genomic Medicine