Associated Papers
ABCA7 variants impact phosphatidylcholine and mitochondria in neurons.
von Maydell D et al.
Nature, 2025
The first description of CTNNB1 syndrome in the Tunisian population: clinical investigation, molecular docking and molecular dynamics simulation of β-catenin/E-cadherin complex.
Kharrat M et al.
Molecular Biology Reports, 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
Alzheimer's Disease and Effects of ABCA7 Polymorphisms: A Review.
Gialama V et al.
Journal of Integrative Neuroscience, 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
Genetic Phenotypes of Alzheimer's Disease: Mechanisms and Potential Therapy.
Quan M et al.
Phenomics (cham, Switzerland), 2023
PSEN2 and ABCA7 variants causing early-onset preclinical pathological changes in Alzheimer's disease: a case report and literature review.
Gan J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Modeling neurodegenerative disorders in zebrafish.
Bashirzade AA et al.
Neuroscience and Biobehavioral Reviews, 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
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Acosta-Uribe J et al.
Genome Medicine, 2022
Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
Khani M et al.
Molecular Neurodegeneration, 2022
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Bis JC et al.
Molecular Psychiatry, 2020
Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.
Cochran JN et al.
Cold Spring Harbor Molecular Case Studies, 2019
The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.
De Roeck A et al.
Acta Neuropathologica, 2019
The genetic landscape of Alzheimer disease.
Carmona S et al.
Handbook of Clinical Neurology, 2018
Targeted Sequencing of Alzheimer Disease Genes in African Americans Implicates Novel Risk Variants.
Logue MW et al.
Frontiers in Neuroscience, 2018
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
Genomics of Alzheimer's disease: Value of high-throughput genomic technologies to dissect its etiology.
Tosto G et al.
Molecular and Cellular Probes, 2016
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation.
Van den Bossche T et al.
Neurology, 2016
ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.
Cukier HN et al.
Neurology. Genetics, 2016
Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study.
Cuyvers E et al.
The Lancet. Neurology, 2015