Functional characterization of two KCND3 variants associated with SCA 19/22 ataxia in Latin American families
This functional characterization of two KCND3 variants associated with SCA19/22 adds new evidence for the pathogenic role of Kv4.3 loss-of-function mutations and establishes a correlation between functional dominance and clinical severity in SCA19/22.
Authors
- David José Dávila‐Ortiz de Montellano (ORCID: https://orcid.org/0000-0002-4286-3096)
- Wendy González (ORCID: https://orcid.org/0000-0002-7535-6883)
- Diana Avila-Jaque (ORCID: https://orcid.org/0009-0002-7787-6847)
- M. Leonor Bustamante (ORCID: https://orcid.org/0000-0001-9071-2463)
- Diego Varela (ORCID: https://orcid.org/0000-0002-9352-414X)
- Eduardo Dı́az (ORCID: https://orcid.org/0000-0002-9731-6524)
- Felipe Simón (ORCID: https://orcid.org/0000-0002-2653-9798)
- Jenny Laura Ruiz-Fuentes (ORCID: https://orcid.org/0000-0002-2509-4328)
- Tamara Hermosilla
- Felipe Arancibia
- Marcelo Miranda (ORCID: https://orcid.org/0009-0001-0974-4757)
- Mariana Luna-Álvarez
- Fernanda Martin
Institutions
- University of Talca (CL)
- Universidad Andrés Bello (CL)
- Fundación Chile (CL)
- Millennium Nucleus of Ion Channel Associated Diseases (CL)
- Hospital San Juan de Dios (CL)
- Clínica MEDS (Chile) (CL)
- Fundación Arturo López Pérez (CL)
- Instituto Nacional de Neurología y Neurocirugía (MX)
- Millennium Institute on Immunology and Immunotherapy (CL)
- University of Chile (CL)
Publication Details
- Journal
- Biological Research
- Published
- 2025-03-26
- DOI
- https://doi.org/10.1186/s40659-025-00589-3
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.91
Funders
- Ministerio de Economía, Fomento y Turismo, Chile
- Agencia Nacional de Investigación y Desarrollo
- Fondo Nacional de Desarrollo Científico y Tecnológico