Novel Truncating Variants in PODXL Represent a New Entity to Be Explored Among Podocytopathies
These findings further support evidence about genetic defects in the <i>PODXL</i> gene associated with a new molecular entity of podocytopathy with adult onset. Additionally, the nucleotide sequence of <i>PODXL</i> contains particularities that require careful analysis to interpret the effect of the variants detected in this gene.
Authors
- Roser Torrá (ORCID: https://orcid.org/0000-0001-8714-2332)
- Borja Quiroga (ORCID: https://orcid.org/0000-0001-5730-1929)
- Patricia de Sequera
- Cristina Castro-Alonso (ORCID: https://orcid.org/0000-0002-8363-1953)
- Michal Červienka
- José María García-Aznar (ORCID: https://orcid.org/0000-0001-5225-6823)
- Alberto Ortíz (ORCID: https://orcid.org/0000-0002-9805-9523)
- Miquel Blasco (ORCID: https://orcid.org/0000-0003-0789-7992)
- María Lara Besada-Cerecedo
- Milagros Sierra Carpio
- Ricardo Mouzo (ORCID: https://orcid.org/0000-0001-5224-4291)
Institutions
- Universidad Complutense de Madrid (ES)
- Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (ES)
- Hospital El Bierzo (ES)
- Hospital Universitario Fundación Jiménez Díaz (ES)
- Hospital Universitario de La Princesa (ES)
- Hospital San Pedro (ES)
- Puigvert Foundation (ES)
- Fundació Clínic per a la Recerca Biomèdica (ES)
- Instituto de Investigación Biomédica de A Coruña (ES)
- Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES)
- Hospital Universitario Infanta Leonor (ES)
- Fundació de Recerca Clínic Barcelona-Institut d’Investigacions Biomèdiques August Pi i Sunyer (ES)
- Universidad Autónoma de Madrid (ES)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Genes
- Published
- 2025-04-18
- DOI
- https://doi.org/10.3390/genes16040464
- Citations
- 1
- Primary Topic
- Renal Diseases and Glomerulopathies
- Type
- article
- Field-Weighted Citation Impact
- 1.43
Funders
- Alexion Pharmaceuticals
- Alnylam Pharmaceuticals
- Sociedad Española de Nefrología
- Chiesi España