Uncovering the Role of an African‐specific <i>ABCA7</i> Frameshift Deletion on Lipid Metabolism and Alzheimer’s Disease
The truncated protein p.Arg578Alafs appears to be expressed and stable in HEK cells, and surprisingly located in the plasma membrane despite the absence of most transmembrane domains. Our three isogenic iPSC pairs will be a great resource for studying the pathogenic effects of the ABCA7 truncation in differentiated cells.
Authors
- Juan I. Young
- Jamie Arvizu (ORCID: https://orcid.org/0009-0004-8733-160X)
- Jonathan L. Haines (ORCID: https://orcid.org/0000-0002-4351-4728)
- Gary W. Beecham (ORCID: https://orcid.org/0000-0002-7061-6332)
- Derek M. Dykxhoorn (ORCID: https://orcid.org/0000-0002-4998-9943)
- Patrice L. Whitehead
- Goldie S. Byrd (ORCID: https://orcid.org/0000-0003-1057-0261)
- Michael L. Cuccaro (ORCID: https://orcid.org/0000-0003-4769-0785)
- Jeffery M. Vance (ORCID: https://orcid.org/0000-0003-3815-8199)
- Aura M. Ramírez (ORCID: https://orcid.org/0009-0007-8892-5743)
- Holly N. Cukier (ORCID: https://orcid.org/0000-0003-3459-7792)
- Brooke A. DeRosa (ORCID: https://orcid.org/0000-0002-7878-9799)
- Takiyah D. Starks (ORCID: https://orcid.org/0000-0001-7267-3480)
- Shaina A. Simon
- Margaret Ann Pericak‐Vance (ORCID: https://orcid.org/0000-0001-7283-8804)
- C. Golightly (ORCID: https://orcid.org/0000-0001-6256-9153)
- Younji Nam
- Larry D. Adams
Institutions
- University of Miami (US)
- Dr. John T. Macdonald Foundation (US)
- Wake Forest University (US)
- Case Western Reserve University (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/alz.092425
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00