A5056109643- Hereditary Neurological Disorders
- HIV Research and Treatment
- Neurological diseases and metabolism
- Immunotherapy and Immune Responses
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Fetal and Pediatric Neurological Disorders
- RNA Interference and Gene Delivery
- RNA regulation and disease
- Mitochondrial Function and Pathology
- Ubiquitin and proteasome pathways
- Neurogenetic and Muscular Disorders Research
- Immune Cell Function and Interaction
- Endoplasmic Reticulum Stress and Disease
- Cellular Mechanics and Interactions
- Microtubule and mitosis dynamics
- Sphingolipid Metabolism and Signaling
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- Cancer Mechanisms and Therapy
- Pharmacological Effects of Natural Compounds
- Systemic Lupus Erythematosus Research
- Toxin Mechanisms and Immunotoxins
- RNA modifications and cancer
- Nuclear Structure and Function
VIB-UAntwerp Center for Molecular Neurology
2014-2024
University of Antwerp
2014-2024
Max Planck Institute of Immunobiology and Epigenetics
2021-2022
Boğaziçi University
2021
Istanbul University
2021
Medical University of Sofia
2021
Corbion (Netherlands)
2020
University of Belgrade
2017
Scripps Research Institute
2017
University Hospital of Zurich
2017
<h3>Objective:</h3> To identify the unknown genetic cause in a nuclear family with an axonal form of peripheral neuropathy and atypical disease course. <h3>Methods:</h3> Detailed neurologic, electrophysiologic, neuropathologic examinations patients were performed. Whole exome sequencing both affected individuals was done. The effect identified sequence variations investigated at cDNA protein level patient-derived lymphoblasts. plasma sphingoid base profile analyzed. Functional consequences...
Upon interruption of antiretroviral therapy, HIV-infected patients usually show viral load rebound to pre-treatment levels. Four patients, hereafter referred as secondary controllers (SC), were identified who initiated therapy during chronic infection and, after stopping treatment, could control virus replication at undetectable levels for more than six months. In the present study we set out unravel possible and immune parameters or mechanisms this phenomenon by comparing with elite...
Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations gene MCM3AP, encoding germinal center associated nuclear protein (GANP), nine affected individuals five unrelated families. The variants were with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild moderate intellectual disability was present seven of individuals. either compound heterozygous homozygous...
Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical descent. Constant developments next-generation sequencing created possibilities to combine whole-exome (WES) and homozygosity a single step.Basic optimization parameters was performed group with autosomal-recessive (AR) mutations which both single-nucleotide polymorphism (SNP) array WES data were available. We varied the criteria...
Abstract Dominant mutations in tyrosyl-tRNA synthetase (YARS1) and six other tRNA ligases cause Charcot-Marie-Tooth peripheral neuropathy (CMT). Loss of aminoacylation is not required for their pathogenicity, suggesting a gain-of-function disease mechanism. By an unbiased genetic screen Drosophila , we link YARS1 dysfunction to actin cytoskeleton organization. Biochemical studies uncover yet unknown actin-bundling property be enhanced by CMT mutation, leading disorganization the nervous...
Developing an immunotherapy to keep human immunodeficiency virus type 1 (HIV-1) replication suppressed while discontinuing highly active antiretroviral therapy (HAART) is important challenge. In the present work, we evaluated in vitro whether dendritic cells (DC) electroporated with gag mRNA can induce HIV-specific responses T from chronically infected subjects. Monocyte-derived DC, therapy-naïve and HAART-treated HIV-1-seropositive subjects, that were consensus codon-optimized HxB2...
Polyelectrolyte microcapsules (MCs) are potent protein delivery vehicles which can be tailored with ligands to stimulate maturation of dendritic cells (DCs). We investigated the immune stimulatory capacity monocyte-derived DC (Mo-DC) loaded these MCs, containing p24 antigen from human immunodeficiency virus type 1 (HIV-1) alone [p24-containing MC (MCp24)] or Toll-like receptor ligand 3 (TLR3) poly I:C (MCp24pIC) as a factor. MO-DC, MCp24pIC, upregulated CCR7, CD80, CD83, and CD86 produced...
Defects in mitochondrial dynamics are a common cause of Charcot-Marie-Tooth disease (CMT), while primary deficiencies the respiratory chain (MRC) rare and atypical for this etiology. This study aims to report
Charcot-Marie-Tooth neuropathy type 4D (CMT4D) is a rare genetic disorder of the peripheral nervous system caused by biallelic mutations in N-Myc Downstream Regulated 1 gene (
A variety of immune-based therapies has been developed in order to boost or induce protective CD8 + T cell responses control HIV replication. Since dendritic cells (DCs) are professional antigen-presenting (APCs) with the unique capability stimulate naïve into effector cells, their use for induction HIV-specific immune studied intensively. In present study we investigated whether modulation activation state DCs electroporated consensus codon-optimized HxB2 gag mRNA enhances capacity...
Inherited peripheral neuropathies (IPNs) are a group of genetic disorders the nervous system in which neuropathy is only or most predominant clinical feature. The common type IPN Charcot-Marie-Tooth (CMT) disease. Autosomal recessive CMT (ARCMT) generally more severe than dominant and its basis poorly understood due to high diversity. Here, we report findings from 56 consanguineous Turkish families initially diagnosed with disease.We screened GDAP1 gene our cohort as it commonly mutated...
Stimulation of antiviral cellular immune responses by therapeutic vaccination HIV-1-infected patients with dendritic cells transfected gag, tat, rev and nef mRNA Ellen Van Gulck, Viggo F Tendeloo, Erika Vlieghe, Marc Vekemans, Ann de Velde, Evelien Smits, Sebastien Anguilie, Nathalie Cools, Barbara Stein, Griet Nijs, Herman Goossens, Liesbet Mertens, Winni De Haes, Celine Merlin, Derek Atkinson, Johnsson Wong, Eric Florence, Guido Vanham, Zwi N Berneman