TRPML-1 Dysfunction and Renal Tubulopathy in Mucolipidosis Type IV
Our findings link TRPML-1 dysfunction to the development of kidney disease in MLIV, providing new insights into its pathogenesis and potential therapeutic targets.
Authors
- Yulia Grishchuk (ORCID: https://orcid.org/0000-0002-4684-4159)
- Francesco Trepiccione (ORCID: https://orcid.org/0000-0002-0622-6612)
- Antonio Miele (ORCID: https://orcid.org/0000-0001-8959-1780)
- Edoardo Nusco
- Patricia L. Musolino (ORCID: https://orcid.org/0000-0001-8724-5649)
- Sandro Montefusco
- Rebecca S. Oberman (ORCID: https://orcid.org/0000-0001-5277-7493)
- Luciano D’Apolito (ORCID: https://orcid.org/0000-0003-4109-3680)
- Diego L. Medina (ORCID: https://orcid.org/0000-0002-7347-2645)
- G. Grieco (ORCID: https://orcid.org/0000-0001-6466-3047)
- Leopoldo Staiano (ORCID: https://orcid.org/0000-0001-7017-1516)
- Carlo La Vecchia (ORCID: https://orcid.org/0000-0003-1441-897X)
- Marcella Cesana (ORCID: https://orcid.org/0000-0002-9099-8681)
- Antonella Capuozzo (ORCID: https://orcid.org/0000-0002-3925-2286)
- Elena Polishchuk (ORCID: https://orcid.org/0000-0002-6053-1060)
- Michela Schiavo
- Martha Bishop
- Francesca Cervellini (ORCID: https://orcid.org/0000-0002-1926-540X)
- Anna Lynch
- Miriam Aurilia (ORCID: https://orcid.org/0000-0002-6641-3321)
Institutions
- University of Campania "Luigi Vanvitelli" (IT)
- Massachusetts General Hospital (US)
- Mucolipidosis IV Foundation (US)
- Biogem (IT)
- Institute of Genetic and Biomedical Research (IT)
- Federico II University Hospital (IT)
- University of Campania "Luigi Vanvitelli" (IT)
- Telethon Institute Of Genetics And Medicine (IT)
- National Research Council (IT)
- Center for Systems Biology (US)
Publication Details
- Journal
- Journal of the American Society of Nephrology
- Published
- 2024-12-04
- DOI
- https://doi.org/10.1681/asn.0000000567
- Citations
- 2
- Primary Topic
- Calcium signaling and nucleotide metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- Fondazione Telethon