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Concept

Ciliopathie

Publications associées (18)

New roles of Bicc1 in cilia formation, cell adhesion, and in adult kidneys

Céline Gagnieux

Bicaudal-C1 (Bicc1), an RNA-Binding protein, is a ciliopathy-associated protein. In development, Bicc1 is necessary for left-right axis specification. Loss of Bicc1 in mice also associates with polycystic kidney development. In human, two hereditary polycy ...

EPFL2023

Tuning SAS-6 architecture with monobodies impairs distinct steps of centriole assembly

Pierre Gönczy, Georg Fantner, Oliver Hantschel, Santiago Harald Andany, Niccolo Banterle, Virginie Hamel, Georgios Hatzopoulos, Tatiana Favez

Centrioles are evolutionarily conserved multi-protein organelles essential for forming cilia and centrosomes. Centriole biogenesis begins with self-assembly of SAS-6 proteins into 9-fold symmetrical ring polymers, which then stack into a cartwheel that sca ...

Nature Research2021

Automated Analysis of Cerebrospinal Fluid Flow and Motile Cilia Properties in The Central Canal of Zebrafish Embryos

François Gallaire, Ludovic Pierre Gustave Keiser

Circulation of cerebrospinal fluid (CSF) plays an important role during development. In zebrafish embryo, the flow of CSF has been found to be bidirectional in the central canal of the spinal cord. In order to compare conditions and genetic mutants across ...

BIO-PROTOCOL2021

Fluid flow-induced left-right asymmetric decay of Dand5 mRNA in the mouse embryo requires a Bicc1-Ccr4 RNA degradation complex

Daniel Constam, Benjamin Marcel Daniel Rothé

Molecular left-right (L-R) asymmetry is established at the node of the mouse embryo as a result of the sensing of a leftward fluid flow by immotile cilia of perinodal crown cells and the consequent degradation of Dand5 mRNA on the left side. We here examin ...

Nature Portfolio2021

A helical inner scaffold provides a structural basis for centriole cohesion

Henning Paul-Julius Stahlberg, Paul Guichard, Virginie Hamel, Davide Gambarotto

The ninefold radial arrangement of microtubule triplets (MTTs) is the hallmark of the centriole, a conserved organelle crucial for the formation of centrosomes and cilia. Although strong cohesion between MTTs is critical to resist forces applied by ciliary ...

2020

Role of the RNA-binding protein Bicaudal-C1 and interacting factors in cystic kidney diseases

Daniel Constam, Benjamin Marcel Daniel Rothé, Lucía Carolina Leal Esteban, Céline Gagnieux

Polycystic kidneys frequently associate with mutations in individual components of cilia, basal bodies or centriolar satellites that perturb complex protein networks. In this review, we focus on the RNA-binding protein Bicaudal-C1 (BICC1) which was found m ...

2020

Early Urinary Biomarkers in Pediatric Autosomal Dominant Polycystic Kidney Disease (ADPKD): No Evidence in the Interest of Urinary Neutrophil Gelatinase-Associated Lipocalin (uNGAL)

Marco Solcà

Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is increasingly diagnosed during childhood by the presence of renal cysts in patients with a positive familial history. No curative treatment is available and early detection and diagnosis co ...

2019

Identification of Chlamydomonas Central Core Centriolar Proteins Reveals a Role for Human WDR90 in Ciliogenesis

Pierre Gönczy, Romain Hamelin, Coralie Busso, Paul Guichard, Florence Armand, Virginie Hamel

Centrioles are evolutionarily conserved macromolecular structures that are fundamental to form cilia, flagella, and centrosomes. Centrioles are 9-fold symmetrical microtubule-based cylindrical barrels comprising three regions that can be clearly distinguis ...

2017

Functional analysis of Bicc1 and novel interacting proteins in renal tubule cell metabolism and polycystic kidneys

Lucía Carolina Leal Esteban

Genetic disorders known as ciliopathies develop polycystic kidneys, including autosomal dominant and autosomal recessive polycystic kidney diseases (ADPKD and ARPKD). Several signaling pathways including the cAMP/PKA pathway are implicated in driving cyst ...

EPFL2017

Computational support for a scaffolding mechanism of centriole assembly

Pierre Gönczy, Paul Guichard, Virginie Hamel

Centrioles are essential for forming cilia, flagella and centrosomes. Successful centriole assembly requires proteins of the SAS-6 family, which can form oligomeric ring structures with ninefold symmetry in vitro. While important progress has been made in ...

Nature Research2016

Chemical Genetic Screen Identifies Natural Products that Modulate Centriole Number

Pierre Gönczy, Kai Johnsson, Michele Graciotti, Zhou Fang

Centrioles are microtubule-based organelles found in most eukaryotic cells and that are critical for the formation of cilia and flagella, as well as of centrosomes in animal cells. The number of centrioles must be strictly regulated in proliferating cells ...

Wiley-Blackwell2016

Regulation of the mRNA silencing activity of Bicaudal-C

Florian Urs Bernet

Cilia dysfunction is a common factor underlying left-right axis malformation and the pathogenesis of virtually all known renal cystic diseases. Mutations in the RNA-binding protein Bicaudal-C (Bicc1) provoke cystic kidneys reminiscent of polycystic kidney ...

EPFL2015

Generalized receptor law governs phototaxis in the phytoplankton Euglena gracilis

Andrea Rinaldo, Amos Maritan, Andrea Giometto, Florian Altermatt

Phototaxis, the process through which motile organisms direct their swimming toward or away from light, is implicated in key ecological phenomena (including algal blooms and diel vertical migration) that shape the distribution, diversity, and productivity ...

National Academy of Sciences2015

An experimental and computational analysis of primary cilia deflection under fluid flow

In this study we have developed a novel model of the deflection of primary cilia experiencing fluid flow accounting for phenomena not previously considered. Specifically, we developed a large rotation formulation that accounts for rotation at the base of t ...

Taylor & Francis Ltd2014

The Ciliogenic Transcription Factor RFX3 Regulates Early Midline Distribution of Guidepost Neurons Required for Corpus Callosum Development

The corpus callosum (CC) is the major commissure that bridges the cerebral hemispheres. Agenesis of the CC is associated with human ciliopathies, but the origin of this default is unclear. Regulatory Factor X3 (RFX3) is a transcription factor involved in t ...

Public Library of Science2012

Gamma-Secretase Dependent Gene Expression : a Potential New Focus of Alzheimer's Disease Research

The causes of sporadic Alzheimer's Disease (AD), the most common form of dementia at old age, are still unknown. Familial early onset AD (FAD) is mainly caused by mutations of Presenilins (PS), the active subunits of γ-secretase. Processing of its substrat ...

EPFL2011

Role of Bicaudal-C in Left-Right Axis Formation and Kidney Morphogenesis

The KH domain RNA binding protein Bicaudal-C is known to play a role in anterior-posterior (AP) patterning in Drosophila by acting on oskar mRNA. In mammals, its expression is induced at late gastrulation in the mesodermal layer of the ventral node. Renal ...

EPFL2010

Bicaudal C, a novel regulator of Dvl signaling abutting RNA-processing bodies, controls cilia orientation and leftward flow

Thomas Alois Weber, Daniel Constam

Polycystic diseases and left-right (LR) axis malformations are frequently linked to cilia defects. Renal cysts also arise in mice and frogs lacking Bicaudal C (BicC), a conserved RNA-binding protein containing K-homology (KH) domains and a sterile alpha mo ...

2009