An AD‐associated variant in <i>TTC3</i> alters the actin cytoskeleton organization and synaptic function in iPSC‐derived forebrain neurons
The results of these studies suggest that the TTC3 p.Ser1038Cys variant causes a loss of function leading to alterations in neurite outgrowth, branching, and synapse formation, phenotypes consistent with alterations in actin stability. These studies in iPSC-derived neurons implicate alterations in actin as potential mechanisms by which TTC3 may contribute to LOAD risk.
Authors
- Derek M. Dykxhoorn (ORCID: https://orcid.org/0000-0002-4998-9943)
- Carolina Duarte (ORCID: https://orcid.org/0000-0002-6066-5843)
- Holly N. Cukier (ORCID: https://orcid.org/0000-0003-3459-7792)
- Brooke A. DeRosa (ORCID: https://orcid.org/0000-0002-7878-9799)
- Derek Van Booven
- Christine Lambert (ORCID: https://orcid.org/0000-0001-8258-7244)
- Anthony J. Griswold (ORCID: https://orcid.org/0000-0003-1925-7810)
- Lauren Coombs
- Margaret A Pericak‐Vance
Institutions
- University of Miami (US)
- Dr. John T. Macdonald Foundation (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.092304
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 0.00