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Major changes in chromosomal somy, gene expression and gene dosage driven by SbIII in Leishmania braziliensis and Leishmania panamensis Vrije Universiteit Brussel University of Antwerp Institute of Tropical Medicine
IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy KU Leuven
Pompe disease is caused by deficiency of acid α-glucosidase (GAA), resulting in glycogen accumulation in various tissues, including cardiac and skeletal muscles and the central nervous system (CNS). Enzyme replacement therapy (ERT) improves cardiac, motor, and respiratory functions but is limited by poor cellular uptake and its inability to cross the blood-brain barrier. Previously, we showed that hematopoietic stem cell (HSPC)-mediated ...
Role of gene dosage in the acquisition of antimony resistance in Leishmania donovani : experimental evidence Institute of Tropical Medicine
Leishmania donovani is the etiological agent of visceral leishmaniasis in the Indian sub-continent (ISC). Leishmania are Protozoa alternating between two life forms: the extracellular promastigotes in the insect vector and the intracellular amastigotes in the mammalian host. Pentavalent antimony was the first line drug in the ISC from 1923 to 2005 when it was abandoned because of treatment failure and drug resistance. In a previous phylogenomic ...
Genome assembly, sex-biased gene expression and dosage compensation in the damselfly Ischnura elegans KU Leuven
The evolution of sex chromosomes, and patterns of sex-biased gene expression and dosage compensation, are poorly known among early winged insects such as odonates. We assembled and annotated the genome of Ischnura elegans (blue-tailed damselfly), which, like other odonates, has a male-hemigametic sex-determining system (X0 males, XX females). By identifying X-linked genes in I. elegans and their orthologs in other insect genomes, we found ...
Development and characterization of a linear human chromosomal vector to study increased gene dosage in mice KU Leuven
Scientific summaryThe main focus of the human genome lab is the study of X-chromosome Linked Intellectual Disability (XLID). One aspect is to screen XLID-patients for copy-number variations (CNVs) using an in house-developed X-BAC-array, that covers the entire X-chromosome with a resolution of 80 kb, and more recently, an X-oligo-array with a much higher resolution. In addition, our research focuses on the functional characterization of the ...
The Effect of SMN Gene Dosage on ALS Risk and Disease Severity. Flanders Institute for Biotechnology KU Leuven
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus University of Antwerp
Both obesity and being underweight have been associated with increased mortality1, 2. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m2 in adults and ≤ −2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive3, 4, 5, feeding and eating disorder and/or anorexia nervosa6, 7. In contrast to obesity, few genetic variants underlying these clinical ...
Morpholino-mediated gene knockdown in zebrafish : it is all about dosage and validation Ghent University
Sex-regulated gene dosage effect of PPARα on synaptic plasticity Hasselt University
Mechanisms driving cognitive improvements following nuclear receptor activation are poorly understood. The peroxisome proliferator-activated nuclear receptor alpha (PPARα) forms heterodimers with the nuclear retinoid X receptor (RXR). We report that PPARα mediates the improvement of hippocampal synaptic plasticity upon RXR activation in a transgenic mouse model with cognitive deficits. This improvement results from an increase in GluA1 subunit ...