Jessie Theuns
A5004696643- Alzheimer's disease research and treatments
- Parkinson's Disease Mechanisms and Treatments
- Nuclear Receptors and Signaling
- Neurological diseases and metabolism
- Lysosomal Storage Disorders Research
- Prion Diseases and Protein Misfolding
- Computational Drug Discovery Methods
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Neurological disorders and treatments
- Cholinesterase and Neurodegenerative Diseases
- Folate and B Vitamins Research
- Genetics and Neurodevelopmental Disorders
- Genetic Neurodegenerative Diseases
- Bioinformatics and Genomic Networks
- Amyotrophic Lateral Sclerosis Research
- Genomic variations and chromosomal abnormalities
- Cerebrovascular and genetic disorders
- Autism Spectrum Disorder Research
- Ginkgo biloba and Cashew Applications
- RNA regulation and disease
- Dementia and Cognitive Impairment Research
- 14-3-3 protein interactions
- Cellular transport and secretion
- Biological Research and Disease Studies
- Genetic Associations and Epidemiology
Agilent Technologies (Belgium)
2019-2020
Maine Medical Center
2020
Universidad de Los Andes, Chile
2020
University of Tartu
2020
Agilent Technologies (United States)
2019
VIB-UAntwerp Center for Molecular Neurology
2007-2016
University of Antwerp
2007-2016
Hertie Institute for Clinical Brain Research
2007-2012
Stanford University
2012
University of Tübingen
2012
The Alzheimer disease and frontotemporal dementia (AD&FTLD) Parkinson (PD) Mutation Databases make available curated information of sequence variations in genes causing Mendelian forms the most common neurodegenerative brain AD, lobar degeneration (FTLD), PD. They are established resources for clinical geneticists, neurologists, researchers need comprehensive, referenced genetic, epidemiologic, clinical, neuropathological, and/or cell biological specific gene mutations these diseases. In...
We assessed the impact of amyloid precursor protein (APP) gene locus duplications in early onset Alzheimer's disease a Dutch population-based sample. Using real-time PCR and an in-house-developed multiplex amplicon quantification assay, we identified genomic APP duplication 1 out 10 multigenerational families segregating disease. In this family, cerebral angiopathy (CAA) coincided with The duplicated region included no other genes than extended maximally over 0.7 Mb. sample 65 familial...
The varied ways in which mutations presenilins (PSEN1 and PSEN2) affect amyloid b precursor protein (APP) processing causing early-onset familial Alzheimer disease (FAD) are complex not yet properly understood. Nonetheless, one useful diagnostic marker is an increased ratio of Ab42 to Ab40 (Ab42/Ab40) patients' brain biological fluids as well transgenic mice cells. We studied Ab APP for a set nine clinical PSEN on novel highly reproducible enzyme-linked immunosorbent assay (ELISA)-based...
Abstract Familial forms of frontotemporal dementia (FTD) with tauopathy are mostly caused by mutations in the gene encoding microtubule‐associated protein tau (MAPT). However, rare familial without MAPT have been reported, suggesting other tauopathy‐related genetic defects. Interestingly, two presenilin 1 (PS1) (Leu113Pro and insArg352) recently associated FTD albeit neuropathological confirmation. We report here a novel PS1 mutation patient Pick‐type absence extracellular β‐amyloid...
<b>Objective: </b> Leucine-rich repeat kinase 2 (<i>LRRK2</i>) mutations are the most common cause of Parkinson disease (PD). Several dominantly inherited pathogenic substitutions have been identified in different domains Lrrk2 protein. Herein, we characterize clinical and genetic features associated with p.R1441C. <b>Methods: We 33 affected 15 unaffected <i>LRRK2</i> c.4321C>T (p.R1441C) mutation carriers through an international consortium originating from three continents. The...
<h3>Background</h3> Progranulin gene (<i>PGRN</i>) haploinsufficiency was recently associated with ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU-17). <h3>Objective</h3> To assess whether<i>PGRN</i>genetic variability contributed other common neurodegenerative brain diseases, such as Alzheimer disease (AD) or Parkinson (PD). <h3>Design</h3> Mutation analysis of<i>PGRN</i> <h3>Setting</h3> Memory Clinic of the Middelheim General Hospital....
Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of association studies Parkinson disease (PD) based on populations Caucasian descent. The extent to which these effects are consistent across different is unknown.Investigators from the Genetic Epidemiology Parkinson's Disease Consortium were invited participate study. A total 11 SNPs genotyped 8,750 cases and 8,955 controls. Fixed as well random models used provide summary risk estimates for variants. We...
Journal Article Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3 Get access Marc Cruts, Cruts Laboratory Neurogenetics, Flemish Institute for Biotechnology, Born-Bunge Foundation, University Antwerp (UIA), Department Biochemistry, Universiteitsplein 1B-2610 Antwerpen Search other works by this author on: Oxford Academic PubMed Google Scholar Hubert Backhovens, Backhovens Sheng-Yue Wang, Wang Geert Van Gassen, Gassen Jessie Theuns, Theuns...
Two extended haplotypes exist across the tau gene—H1 and H2—with H1 consistently associated with increased risk of progressive supranuclear palsy (PSP). Using 15 haplotype tagging SNPs (htSNPs), capturing >95% MAPT diversity, we performed association analysis in a US sample 274 predominantly pathologically confirmed PSP patients 424 matched control individuals. We found that is one two major ancestral haplotypes, H1B, increasing from 14% individuals to 22% ( P <0.001). In young patients, H1B...
In one genetic study, the high temperature requirement A2 (HTRA2) mitochondrial protein has been associated with increased risk for sporadic Parkinson disease (PD). One missense mutation, p.Gly399Ser, in its C-terminal PDZ domain (from initial letters of postsynaptic density 95, PSD-95; discs large; and zonula occludens-1, ZO-1 proteins [Kennedy, 1995]) resulted defective protease activation, induced dysfunction when overexpressed stably transfected cells. Here we examined contribution...
Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as cause for an autosomal dominant form of Parkinson disease . Although additional missense variants were described, their pathogenic role yet remains inconclusive.We performed largest multi-center study to ascertain frequency and pathogenicity reported more than 15,000 individuals worldwide. p.Asp620Asn was detected 5 familial 2 sporadic PD cases not healthy controls, p.Leu774Met 6 1 control,...
Abstract STUDY QUESTION Can reduced representation genome sequencing offer an alternative to single nucleotide polymorphism (SNP) arrays as a generic and genome-wide approach for comprehensive preimplantation genetic testing monogenic disorders (PGT-M), aneuploidy (PGT-A) structural rearrangements (PGT-SR) in human embryo biopsy samples? SUMMARY ANSWER Reduced sequencing, with OnePGT, offers generic, next-generation sequencing-based automated haplotyping copy-number assessment, both combined...
<h3>Objectives:</h3> The objective of this study is to clarify the role (G<sub>4</sub>C<sub>2</sub>)<sub>n</sub> expansions in etiology Parkinson disease (PD) worldwide multicenter Genetic Epidemiology Parkinson9s Disease (GEO-PD) cohort. <h3>Methods:</h3> <i>C9orf72</i> repeats were assessed a GEO-PD cohort 7,494 patients diagnosed with PD and 5,886 neurologically healthy control individuals ascertained Europe, Asia, North America, Australia. <h3>Results:</h3> A pathogenic...
Mutations in the presenilin 1 (PSEN1) gene have been implicated 18-50% of autosomal dominant cases with early-onset Alzheimer's disease (EOAD).Also, PSEN1 has suggested as a potential risk late-onset AD cases.We recently showed genetic association population-based study EOAD, pointing to 5′ regulatory region PSEN1.In this we systematically screened 3.5 kb upstream and found four novel polymorphisms.Genetic analysis confirmed two polymorphisms increased for EOAD.In addition, detected...