Publicaties
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Molecular and functional characterization of urine-derived podocytes from patients with Alport syndrome KU Leuven
Alport syndrome (AS) is a genetic disorder involving mutations in the genes encoding collagen IV α3, α4 or α5 chains, resulting in the impairment of glomerular basement membrane. Podocytes are responsible for production and correct assembly of collagen IV isoforms; however, data on the phenotypic characteristics of human AS podocytes and their functional alterations are currently limited. The evident loss of viable podocytes into the urine of ...
The antioxidative role of cytoglobin in podocytes Universiteit Antwerpen
Aims: Cytoglobin (CYGB) is a member of the mammalian globin family of respiratory proteins. Despite extensive research efforts, its physiological role remains largely unknown, but potential functions include reactive oxygen species (ROS) detoxification and signaling. Accumulating evidence suggests that ROS play a crucial role in podocyte detachment and apoptosis during diabetic kidney disease. This study aimed to explore the potential ...
Stereological and immunogold studies on TIE1 and TIE2 localization in glomeruli indicate angiopoietin signaling in podocytes Universiteit Gent
Novel Human Podocyte Cell Model Carrying G2/G2 APOL1 High-Risk Genotype KU Leuven
Apolipoprotein L1 (APOL1) high-risk genotypes (HRG), G1 and G2, increase the risk of various non-diabetic kidney diseases in the African population. To date, the precise mechanisms by which APOL1 risk variants induce injury on podocytes and other kidney cells remain unclear. Trying to unravel these mechanisms, most studies have used animal or cell models created by gene editing. We developed and characterised conditionally immortalised human ...
Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility KU Leuven
The involvement of the glomerulus in the pathogenesis of cystinosis, caused by loss-of-function mutations in cystinosin (CTNS, 17p13), is a matter of controversy. Although patients with cystinosis demonstrate glomerular lesions and high-molecular-weight proteinuria starting from an early age, a mouse model of cystinosis develops only signs of proximal tubular dysfunction. Here we studied podocyte damage in patients with cystinosis by analyzing ...
Human Chorionic Stem Cells: Podocyte Differentiation and Potential for the Treatment of Alport Syndrome KU Leuven
Alport syndrome (AS) is a hereditary glomerulopathy caused by a mutation in type IV collagen genes, which disrupts glomerular basement membrane, leading to progressive glomerulosclerosis and end-stage renal failure. There is at present no cure for AS, and cell-based therapies offer promise to improve renal function. In this study, we found that human first trimester fetal chorionic stem cells (CSC) are able to migrate to glomeruli and ...
Novel insights into the pathogenesis of cystinosis Podocyte dysfunction and zebrafish modeling KU Leuven
Cystinosis is a rare, incurable autosomal recessive lysosomal storage disease caused by mutations in the CTNS gene, which encodes the cystine transporter cystinosin, leading to lysosomal cystine accumulation in all cells of the body. Although cystinosis is a multi-systemic disorder, the kidneys are the first and the most severely affected organs. While cystinosis is an archetypal proximal tubular disorder, patients present with progressive ...
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review KU Leuven
This review deals with podocyte proteins that play a significant role in the structure and function of the glomerular filter. Genetic linkage studies has identified several genes involved in the development of nephrotic syndrome and contributed to the understanding of the pathophysiology of glomerular proteinuria and/or focal segmental glomerulosclerosis. Here, we describe already well-characterized genetic diseases due to mutations in nephrin, ...