Identification of novel therapeutic targets in Pendred syndrome/DFNB4

Project: Research

PMU FIZ Talent Pool 042023 RM&NT

Status	Finished
Effective start/end date	31/08/23 → 30/06/26

Characterization of the hearing phenotype of a new mouse model carrying a pathogenic variant of Slc26a4 (pendrin).
Bernardinelli, E. (First author), Dossena, S. (Last author) & Weitgasser, L., 26 Jun 2026.
Research output: Contribution to conference › Abstract
Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants
Bernardinelli, E. (First author), Jamontas, R., Matulevičius, A., Huber, F. (Co-author), Nasser, H., Klaus, S., Zhu, H., Gao, J. & Dossena, S. (Last author), May 2025, In: INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE. 55, 5, 16 p., 69.
Research output: Contribution to journal › Original Article › peer-review

Open Access
4 Citations (Web of Science)
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct
Bernardinelli, E. (First author), Liuni, R. (First author), Jamontas, R., Tesolin, P., Morgan, A., Girotto, G., Roesch, S. (Co-author) & Dossena, S. (Last author), 22 Mar 2025, In: MOLECULAR MEDICINE. 31, 1, p. 111 21 p., 111.
Research output: Contribution to journal › Original Article › peer-review

Open Access
2 Citations (Web of Science)

Project Details