Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter
data suggest that an aberrant PPP3CA protein in Pt.1 could lead to UPR activation resulting in increased cell death. In Pt.2 an imbalance between the two main isoforms possibly explains the peculiar pathological manifestations, such as a moderate developmental delay.
Authors
- Elisa Adele Colombo (ORCID: https://orcid.org/0000-0001-9062-3188)
- Anna Cereda
- Silvia Ancona (ORCID: https://orcid.org/0000-0003-1999-129X)
- Esi Taci
- Donatella Milani (ORCID: https://orcid.org/0000-0002-3087-8514)
- Maria Rosaria Iascone (ORCID: https://orcid.org/0000-0002-4707-212X)
- Valentina Massa (ORCID: https://orcid.org/0000-0003-2246-9515)
- Lidia Pezzani (ORCID: https://orcid.org/0000-0002-4601-2985)
- Elisabetta Di Fede (ORCID: https://orcid.org/0000-0002-6815-4458)
- Andrea Gallina (ORCID: https://orcid.org/0000-0002-4540-9569)
- Chiara Parodi (ORCID: https://orcid.org/0000-0002-2689-2049)
- Paolo Grazioli (ORCID: https://orcid.org/0000-0001-9120-4217)
- Laura Pezzoli (ORCID: https://orcid.org/0000-0002-8111-563X)
- Antonella Lettieri (ORCID: https://orcid.org/0000-0001-7750-0423)
- Cristina Gervasini (ORCID: https://orcid.org/0000-0002-1165-7935)
- Silvia Castiglioni (ORCID: https://orcid.org/0000-0002-0870-9108)
Institutions
- University of Milan (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Papa Giovanni XXIII (IT)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-12-20
- DOI
- https://doi.org/10.1186/s13023-024-03507-0
- Citations
- 4
- Primary Topic
- Signaling Pathways in Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.94
Funders
- Università degli Studi di Milano
- Papua New Guinea University of Technology
- Fondazione Umberto Veronesi
- Center for Neurotechnology, University of Washington