ABCA7 Loss of Function Variants Disrupt Neuronal Lipid Metabolism and Respiration
These findings suggest that phosphatidylcholine disruption may underlie metabolic and pathological defects in the context of impaired ABCA7, with potential relevance to a broader population. In line with a growing body of evidence, these findings implicate lipid dysfunction in Alzheimer's disease etiology and suggest therapeutic avenues for a subset of at-risk individuals.
Authors
- Agnese Graziosi (ORCID: https://orcid.org/0000-0002-4992-7902)
- George Samaan
- Aine Ni Scannail
- Julia Maeve Bonner (ORCID: https://orcid.org/0000-0003-3551-9972)
- Guillaume Leclerc
- Ching‐Chi Chiu (ORCID: https://orcid.org/0000-0002-1827-8049)
- Ping‐Chieh Pao (ORCID: https://orcid.org/0000-0001-6788-7185)
- Andrea Spitaleri (ORCID: https://orcid.org/0000-0003-3012-3557)
- Gwyneth Welch (ORCID: https://orcid.org/0000-0003-1635-1190)
- Noelle Leary
- Carles A. Boix (ORCID: https://orcid.org/0000-0001-9212-856X)
- Colin Staab
- Liwang Liu (ORCID: https://orcid.org/0000-0003-4689-1964)
- Chung Jong Yu
- Mingpei Li
- G. Menchaca
- Shannon Wright
- Oisín King
- Li‐Huei Tsai
- Hansruedi Mathys
- Daniel Leible
- Manolis Kellis
- Djuna K Von Maydell
Institutions
- University of Pittsburgh (US)
- University of Milan (IT)
- Massachusetts Institute of Technology (US)
Publication Details
- Journal
- Alzheimer s & Dementia
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1002/alz70855_103044
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00