Explanipedia

IL1β is induced in nephronophthisis but does not mediate kidney damage Open

G M Ferri, Mariyam El Hamdaoui, Jean Martin, E. Wolfgang Kuehn, Frank Bienaimé , et al. · 2025

Cilia to basement membrane signalling is a biomechanical driver of autosomal dominant polycystic kidney disease Open

Manal Mazloum, Brice Lapin, Amandine Viau, Rushdi Alghamdi, Martine Burtin , et al. · 2024

Autosomal dominant polycystic kidney disease (ADPKD), which affects around 4 million patients worldwide, is characterized by the formation of multiple tubule derived cysts, which grossly enlarge both kidneys and progressively compromise re…

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator ofNPHP1ciliopathy-gene transcripts Open

Alexia Mahuzier, Gweltas Odye, Valentina Grampa, Albane A. Bizet, Amandine Viau , et al. · 2024

Ciliopathies are a class of multi-systemic genetic diseases characterized by ciliary dysfunction. Here, we report a novel ANKS3 variant in patients with a renal ciliopathy known as nephronophthisis (NPH) associated with hepatic defects. AN…

Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidney cell type consensus signatures Open

Marceau Quatredeniers, Alice Serafin, Alexandre Benmerah, Antonio Rausell, Sophie Saunier , et al. · 2023

Tuning the 3D microenvironment of reprogrammed tubule cells enhances biomimetic modeling of polycystic kidney disease Open

Roman Pichler, Ludovica Rizzo, Kevin Tröndle, Michaela Bühler, Hanna Brucker , et al. · 2022

Agonists of prostaglandin E 2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies Open

Hugo García, Alice Serafin, Flora Silbermann, Esther Porée, Amandine Viau , et al. · 2022

Significance Juvenile nephronophthisis (NPH) is a renal ciliopathy due to a dysfunction of primary cilia for which no curative treatment is available. This paper describes the identification of agonists of prostaglandin E 2 receptors as a …

Prostaglandin E1 as therapeutic molecule for Nephronophthisis and related ciliopathies Open

Hugo García, Alice Serafin, Flora Silbermann, Esther Porée, Clémentine Mahaut , et al. · 2022

Summary Nephronophthisis (NPH) is an autosomal recessive tubulointerstitial nephropathy belonging to the ciliopathy disorders and known as the most common cause of hereditary end-stage renal disease in children. Yet, no curative treatment …

YAP restricts renal inflammation and mitigates kidney damage in nephronothisis related kidney disease Open

Giulia Ferri, Valentine Goffette, Esther Porée, Simone Braeg, Shana Carvalho , et al. · 2022

Nephronophthisis (NPH) is an orphan recessive kidney disease mostly caused by mutations in NPHP1 and 20 other genes encoding proteins that localize to primary cilia. To date the pathways linking altered primary cilia function to progressiv…

The renal inflammatory network of nephronophthisis Open

Marceau Quatredeniers, Frank Bienaimé, Giulia Ferri, Pierre Isnard, Esther Porée , et al. · 2022

Renal ciliopathies are the leading cause of inherited kidney failure. In autosomal dominant polycystic kidney disease (ADPKD), mutations in the ciliary gene PKD1 lead to the induction of CCL2, which promotes macrophage infiltration in the …

Loss of PKD1/polycystin-1 impairs lysosomal activity in a CAPN (calpain)-dependent manner Open

Lukas Peintner, Anusha Venkatraman, Astrid Waeldin, Alexis Hofherr, Tilman Busch , et al. · 2022

Mutations in the PKD1 gene result in autosomal dominant polycystic kidney disease (ADPKD), the most common monogenetic cause of end-stage renal disease (ESRD) in humans. Previous reports suggested that PKD1, together with PKD2/polyc…

Ift88, but not Kif3a, is required for establishment of the periciliary membrane compartment Open

Fruzsina Kotsis, Heike Janusch, Yujie Li, Amandine Viau, Daniel Epting , et al. · 2021

The primary cilium is a sensory organelle at the cell surface with integral functions in cell signaling. It contains a microtubular axoneme that is rooted in the basal body (BB) and serves as a scaffold for the movement of intraflagellar t…

Identification of pathological transcription in autosomal dominant polycystic kidney disease epithelia Open

Sebastian Friedrich, Hannah Müller, Caroline Riesterer, Hannah Schüller, Katja Friedrich , et al. · 2021

The renal inflammatory network of nephronophthisis Open

Marceau Quatredeniers, Frank Bienaimé, Giulia Ferri, Pierre Isnard, Esther Porée , et al. · 2021

STRUCTURED ABSTRACT BACKGROUND The majority of genetic kidney disease leading to kidney failure is caused by mutations in ciliary genes. How cilia malfunction leads to progressive kidney damage is poorly understood, but recent evidence lin…

Loss of PKD1/polycystin-1 impairs lysosomal activity in a CAPN (calpain)-dependent manner Open

Lukas Peintner, Anusha Venkatraman, Astrid Waeldin, Alexis Hofherr, Tilman Busch , et al. · 2021

Mutations in the PKD1 gene result in autosomal dominant polycystic kidney disease (ADPKD), the most common monogenetic cause of end-stage renal disease (ESRD) in humans. Previous reports suggested that PKD1, together with PKD2/polyc…

Loss of PKD1/polycystin-1 impairs lysosomal activity in a CAPN (calpain)-dependent manner Open

Lukas Peintner, Anusha Venkatraman, Astrid Waeldin, Alexis Hofherr, Tilman Busch , et al. · 2020

Mutations in the PKD1 gene result in autosomal dominant polycystic kidney disease (ADPKD), the most common monogenetic cause of end-stage renal disease (ESRD) in humans. Previous reports suggested that PKD1, together with PKD2/polyc…

Tubular STAT3 Limits Renal Inflammation in Autosomal Dominant Polycystic Kidney Disease Open

Amandine Viau, Maroua Baaziz, Amandine Aka, Manal Mazloum, Clément Nguyen , et al. · 2020

Significance Statement Recent research into the pathophysiology of autosomal dominant polycystic kidney disease indicates that both signaling of primary cilia of tubular cells and immune cell infiltration play key roles. However, the recip…

Loss of PKD1/polycystin-1 impairs lysosomal activity in a CAPN (calpain)-dependent manner Open

Lukas Peintner, Anusha Venkatraman, Astrid Waeldin, Alexis Hofherr, Tilman Busch , et al. · 2020

Mutations in the PKD1 gene result in autosomal dominant polycystic kidney disease (ADPKD), the most common monogenetic cause of end-stage renal disease (ESRD) in humans. Previous reports suggested that PKD1, together with PKD2/polyc…

Tubular STAT3 limits renal inflammation in autosomal dominant polycystic kidney disease Open

Amandine Viau, Maroua Baziz, Amandine Aka, Clément Nguyen, E. Wolfgang Kuehn , et al. · 2019

The inactivation of the ciliary proteins polycystin 1 or 2 leads to autosomal dominant polycystic kidney disease (ADPKD), the leading genetic cause of chronic kidney disease. Both cilia signaling and interstitial inflammation play a critic…

Divergent function of polycystin 1 and polycystin 2 in cell size regulation Open

Amandine Viau, Fruzsina Kotsis, Christopher Boehlke, Simone Braeg, Marinella Klein , et al. · 2019

Cilia‐localized LKB 1 regulates chemokine signaling, macrophage recruitment, and tissue homeostasis in the kidney Open

Amandine Viau, Frank Bienaimé, Kamile Lukas, Abhijeet Todkar, Manuel Knoll , et al. · 2018

Hepatic Production of Fibroblast Growth Factor 23 in Autosomal Dominant Polycystic Kidney Disease Open

Frank Bienaimé, Ariane Ambolet, Béatrice Aussilhou, François Brazier, Marie Fouchard , et al. · 2018

Context The bone-derived hormone fibroblast growth factor (FGF) 23 controls phosphate homeostasis and urinary phosphate excretion. FGF23 plasma levels increase in the early stage of renal insufficiency to prevent hyperphosphatemia. Recent …

Spindle pole cohesion requires glycosylation-mediated localization of NuMA Open

Jérémy Magescas, Lucie Sengmanivong, Amandine Viau, Adeline Mayeux, Tien Dang , et al. · 2017

Targeting mTOR Signaling Can Prevent the Progression of FSGS Open

Stefan Zschiedrich, Tillmann Bork, Wei Liang, Nicola Wanner, Kristina Eulenbruch , et al. · 2017

Mammalian target of rapamycin (mTOR) signaling is involved in a variety of kidney diseases. Clinical trials administering mTOR inhibitors to patients with FSGS, a prototypic podocyte disease, led to conflicting results, ranging from remiss…

Supplementary Material for: Cystic Gene Dosage Influences Kidney Lesions After Nephron Reduction Open

Stéphanie Le Corre, Amandine Viau, Martine Burtin, K. El-Karoui, Yvette Cnops , et al. · 2017

Cystic kidney disease is characterized by the progressive development of multiple fluid-filled cysts. Cysts can be acquired, or they may appear during development or in postnatal life due to specific gene defects and lead to renal failure.…

Supplementary Material for: Cystic Gene Dosage Influences Kidney Lesions After Nephron Reduction Open

Stéphanie Le Corre, Amandine Viau, Martine Burtin, K. El-Karoui, Yvette Cnops , et al. · 2017

Cystic kidney disease is characterized by the progressive development of multiple fluid-filled cysts. Cysts can be acquired, or they may appear during development or in postnatal life due to specific gene defects and lead to renal failure.…

Efficient genome editing of differentiated renal epithelial cells Open

Alexis Hofherr, Tilman Busch, Nora Huber, Andreas Nold, Albert Bohn , et al. · 2016

Stat3 Controls Tubulointerstitial Communication during CKD Open

Frank Bienaimé, Mordi Muorah, Lucie Yammine, Martine Burtin, Clément Nguyen , et al. · 2016

In CKD, tubular cells may be involved in the induction of interstitial fibrosis, which in turn, leads to loss of renal function. However, the molecular mechanisms that link tubular cells to the interstitial compartment are not clear. Activ…

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2 Open

Khalil El Karoui, Amandine Viau, Olivier Dellis, Alessia Bagattin, Clément Nguyen , et al. · 2016

In chronic kidney disease (CKD), proteinuria results in severe tubulointerstitial lesions, which ultimately lead to end-stage renal disease. Here we identify 4-phenylbutyric acid (PBA), a chemical chaperone already used in humans, as a nov…

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