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ABCA7 variants impact phosphatidylcholine and mitochondria in neurons
ABCA7 haplodeficiency disrupts microglial inflammatory responses and membrane trafficking
ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism
ABCA7 deficiency compromises astrocytic lipid homeostasis and impairs neuronal support
ABCA7 VNTR characterization based on raw current PromethION sequencing data
Neuronal ABCA7 deficiency aggravates mitochondrial dysfunction and neurodegeneration in Alzheimer’s disease
Loss-of-function (LoF) variants in the lipid transporter ABCA7 significantly increase Alzheimer's disease risk (odds ratio circa 2), yet the underlying pathogenic mechanisms and specific neural cell types affected remain unclear. To investigate this, we generated a single-nucleus RNA sequencing atla...
ORGANISM(S): Homo sapiens 
2025-07-25 | GSE299277 | GEO
Carrying premature termination codons in one allele of the ABCA7 gene is associated with an increased risk for Alzheimer’s disease (AD). While the primary function of ABCA7 is to regulate the transport of phospholipids and cholesterol, ABCA7 is also involved in maintaining homeostasis of the immune ...
ORGANISM(S): Mus musculus 
2019-10-31 | GSE139592 | GEO
ABCA7 loss-of-function variants are associated with increased risk of Alzheimer’s disease (AD). Using ABCA7 knockout human iPSC models generated with CRISPR/Cas9, we investigated the impacts of ABCA7 deficiency on neuronal metabolism and function. Lipidomics revealed that mitochondria-related phosph...
ORGANISM(S): Homo sapiens 
2024-01-17 | GSE247360 | GEO
Neuronal ABCA7 deficiency aggravates mitochondrial dysfunction and neurodegeneration in Alzheimer’s disease [II]
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