Article

ABCA7 Loss-of-Function Variants Impact Phosphatidylcholine Metabolism in the Human Brain

2023-09-06

Abstract excerpt

Loss-of-function (LoF) variants in the lipid transporter ABCA7 significantly increase Alzheimer’s disease risk (odds ratio ≈ 2), yet the underlying pathogenic mechanisms and specific neural cell types affected remain unclear. To investigate this, we generated a single-nucleus RNA sequencing atlas of 36 human postmortem prefrontal cortex samples, including 12 carriers of ABCA7 LoF variants and 24 matched non-carri...

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Literature Corpus work: 3f64fd7a-d161-59c0-ae28-e739ae0cd617
DOI: 10.1101/2023.09.05.556135

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