Known disease‐causing variants in homologous proteins help predict pathogenicity of SORL1 variants in Alzheimer’s disease
We envision that our findings will be used by clinical geneticists for assessing variants they identify in patients, allowing further development of diagnostic procedures and patient counseling strategies. Ultimately, the identification of the most pathogenic variants will inform investigations into the molecular mechanisms of endosomal recycling which will support the development of therapeutic treatment strategies for SORL1 variant-carrying patients.
Authors
- Marc Hulsman (ORCID: https://orcid.org/0000-0002-9889-3606)
- Giulia Monti (ORCID: https://orcid.org/0000-0001-9404-1273)
- Henne Holstege (ORCID: https://orcid.org/0000-0002-7688-3087)
- Anne Mette G. Jensen (ORCID: https://orcid.org/0000-0002-3435-2691)
- Olav M. Andersen (ORCID: https://orcid.org/0000-0003-4226-3354)
- Johan G. Olsen (ORCID: https://orcid.org/0000-0001-8805-6372)
- Matthijs W. J. de Waal (ORCID: https://orcid.org/0000-0001-6746-4326)
Institutions
- Aarhus University (DK)
- Amsterdam University Medical Centers (NL)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.084835
- Primary Topic
- Machine Learning in Bioinformatics
- Type
- article
- Field-Weighted Citation Impact
- 0.00