Emanuele Bernardinelli

Salzburg, Austria

Last Updated: 09/26/2026

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Found 22 publications

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal: Journal of biomedical science

Published: March 08, 2026

Editorial: Pathobiological defects in sensorineural hearing loss: from identification to rescue.

Editorial: Pathobiological defects in sensorineural hearing loss: from identification to rescue.

Journal: Frontiers in molecular neuroscience

Published: June 26, 2025

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.

Journal: Molecular medicine (Cambridge, Mass.)

Published: March 26, 2025

Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants.

Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants.

Journal: International journal of molecular medicine

Published: October 08, 2024

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Journal: Molecular medicine (Cambridge, Mass.)

Published: July 18, 2024

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.

Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.

Journal: Biomedicines

Published: April 20, 2023

Molecular Features of SLC26A4 Common Variant p.L117F.

Molecular Features of SLC26A4 Common Variant p.L117F.

Journal: Journal of clinical medicine

Published: August 19, 2022

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation.

Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation.

Journal: Frontiers in molecular neuroscience

Published: July 21, 2022

LPA receptor 1 (LPAR1) is a novel interaction partner of Filamin A that promotes Filamin A phosphorylation, MRTF-A transcriptional activity and oncogene-induced senescence.

LPA receptor 1 (LPAR1) is a novel interaction partner of Filamin A that promotes Filamin A phosphorylation, MRTF-A transcriptional activity and oncogene-induced senescence.

Journal: Oncogenesis

Published: July 07, 2022

Selective Activation of CNS and Reference PPARGC1A Promoters Is Associated with Distinct Gene Programs Relevant for Neurodegenerative Diseases.

Selective Activation of CNS and Reference PPARGC1A Promoters Is Associated with Distinct Gene Programs Relevant for Neurodegenerative Diseases.

Journal: International journal of molecular sciences

Published: February 20, 2021

Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene

Molecular and functional testing in case of hereditary hearing loss associated with the SLC26A4 gene

Journal: Laryngo- rhino- otologie

Published: December 11, 2020

O-GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to α-Integrin.

O-GlcNAcylation Suppresses the Ion Current IClswell by Preventing the Binding of the Protein ICln to α-Integrin.

Journal: Frontiers in cell and developmental biology

Published: September 16, 2020

Showing 1-12 of 22

Last Updated: 09/26/2026