Investigating the role of <i>SORL1</i> in mediating AD‐specific endolysosomal phenotypes in neurons and microglia
Our results indicate that a single gene copy of the SORL1 C1431fs variant is sufficient to induce neuronal defects in endosomal trafficking and APP processing. Our findings are consistent with previously reported results from similar studies of SORL1 in cultured neurons. Ongoing studies in SORL1<sup>+/C1431fs</sup> microglia and neurons will help broaden our understanding of the role SORL1 plays in regulating endolysosomal phenotypes in multiple cell types implicated in AD.
Authors
- Derek M. Dykxhoorn (ORCID: https://orcid.org/0000-0002-4998-9943)
- Michael L. Cuccaro (ORCID: https://orcid.org/0000-0003-4769-0785)
- Jeffery M. Vance (ORCID: https://orcid.org/0000-0003-3815-8199)
- Brooke A. DeRosa (ORCID: https://orcid.org/0000-0002-7878-9799)
- Peter St George‐Hyslop (ORCID: https://orcid.org/0000-0003-0796-7209)
- C. Golightly (ORCID: https://orcid.org/0000-0001-6256-9153)
- Yalun Zhang (ORCID: https://orcid.org/0000-0002-4078-4087)
- Brian W. Kunkle (ORCID: https://orcid.org/0000-0002-9515-5157)
- Lauren Coombs
- Margaret A Pericak‐Vance
- Lauren E. Rothschild
Institutions
- University of Miami (US)
- University of Toronto (CA)
- Dr. John T. Macdonald Foundation (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.092619
- Citations
- 1
- Primary Topic
- Alzheimer's disease research and treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.33