10 Result(s)

Article

Mutated Toll-like receptor 9 increases Alzheimer’s disease risk by compromising innate immunity protection

The development of Alzheimer’s disease (AD) involves central and peripheral immune deregulation. Gene identification and studies of AD genetic variants of peripheral immune components may aid understanding of ...

Rita Cacace, Lujia Zhou, Elisabeth Hendrickx Van de Craen… in Molecular Psychiatry (2023)

Article

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer’s disease

Alzheimer’s disease (AD) is the leading cause of dementia, clinically characterized by memory deficits and progressive cognitive decline. Despite decades of research effective therapies are lacking, and a larg...

Liene Bossaerts, Rita Cacace, Christine Van Broeckhoven in Molecular Neurodegeneration (2022)

Article

Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion

The adenosine triphosphate–binding cassette subfamily A member 7 gene (ABCA7) is associated with Alzheimer’s disease (AD) in large genome-wide association studies. Targeted sequencing of ABCA7 suggests a role for...

Liene Bossaerts, Elisabeth Hendrickx Van de Craen… in Acta Neuropathologica Communications (2022)

Article

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD) has substantially increased over the past three decades. Early genetic studies of NBD families identified rare and highly penetrant...

Federica Perrone, Rita Cacace, Julie van der Zee… in Genome Medicine (2021)

Article

Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer’s disease in the European American population

Rita Cacace, Christine Van Broeckhoven in Acta Neuropathologica (2021)

Article

Amyloid-β_1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations

Alzheimer’s disease (AD) mutations in amyloid precursor protein (APP) and presenilins (PSENs) could potentially lead to the production of longer amyloidogenic Aβ peptides. Amongst these, Aβ_1–43 is more prone to a...

Federica Perrone, Maria Bjerke, Elisabeth Hens… in Alzheimer's Research & Therapy (2020)

Article

NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Technological limitations have hindered the large-scale genetic investigation of tandem repeats in disease. We show that long-read sequencing with a single Oxford Nanopore Technologies PromethION flow cell per...

Arne De Roeck, Wouter De Coster, Liene Bossaerts, Rita Cacace… in Genome Biology (2019)

Article

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability

Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases (NBD) involving early neuronal network dysfunctions and alterations in the homeostasis of neuronal firing as culprits of n...

Rita Cacace, Bavo Heeman, Sara Van Mossevelde, Arne De Roeck… in Acta Neuropathologica (2019)

Article

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

Mutations leading to premature termination codons in ATP-Binding Cassette Subfamily A Member 7 (ABCA7) are high penetrant risk factors of Alzheimer’s disease (AD). The influence of other genetic variants in ABCA7

Arne De Roeck, Lena Duchateau, Jasper Van Dongen, Rita Cacace… in Acta Neuropathologica (2018)

Article

Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

TAR DNA-binding protein 43 (TDP-43) inclusions are pathological hallmarks of patients with frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Loss of TDP-43 in zebrafish engender...

Jonathan Janssens, Stéphanie Philtjens… in Acta Neuropathologica Communications (2015)