Associated Papers
Rare ABCA7 mutations in Alzheimer's disease and cerebral amyloid angiopathy pathology.
Hendrickx Van de Craen E et al.
Neurobiology of Aging, 2026
ABCA7 variants impact phosphatidylcholine and mitochondria in neurons.
von Maydell D et al.
Nature, 2025
ABCA7 Loss-of-Function Variants Impact Phosphatidylcholine Metabolism in the Human Brain.
von Maydell D et al.
Biorxiv : the Preprint Server for Biology, 2025
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Nicolas G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
The ABC's of Alzheimer risk gene ABCA7.
Duchateau L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response.
Duchateau L et al.
Alzheimer's Research & Therapy, 2023
ABCA7-Associated Clinical Features and Molecular Mechanisms in Alzheimer's Disease.
Qian XH et al.
Molecular Neurobiology, 2023
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H et al.
Nature Genetics, 2022
The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease.
Bossaerts L et al.
Molecular Neurodegeneration, 2022
Clinical Deep Phenotyping of ABCA7 Mutation Carriers.
Campbell AS et al.
Neurology. Genetics, 2022
Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion.
Bossaerts L et al.
Acta Neuropathologica Communications, 2022
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
Genetic discoveries and advances in late-onset Alzheimer's disease.
Rezazadeh M et al.
Journal of Cellular Physiology, 2019
The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.
De Roeck A et al.
Acta Neuropathologica, 2019
An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer's disease.
De Roeck A et al.
Acta Neuropathologica, 2018
Genetic underpinnings in Alzheimer's disease - a review.
Moustafa AA et al.
Reviews in the Neurosciences, 2018
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls.
Bellenguez C et al.
Neurobiology of Aging, 2017
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
De Roeck A et al.
Acta Neuropathologica, 2017
ABCA7 loss-of-function variants, expression, and neurologic disease risk.
Allen M et al.
Neurology. Genetics, 2017
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.
Cukier HN et al.
Neurology. Genetics, 2016
Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans.
Del-Aguila JL et al.
Alzheimer's Research & Therapy, 2015
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
Cuyvers E et al.
The Lancet. Neurology, 2015
Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease.
Steinberg S et al.
Nature Genetics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014