Sophie Saunier

SatelliteQ: an open-source workflow for multidimensional, object-based quantification of centriolar satellites

SatelliteQ quantifies centriolar satellites in 2D, 3D, and time-lapse images, revealing spatial and numerical changes linked to cellular states and disease.

Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pancreatic disease

This study identifies HNF1B and NPHP3 mutations as causes of a new pancreatic disease, ciliogenic pancreatopathy, characterized by acinar atrophy and adipose replacement, and links ciliary dysfunction to pancreatic dysfunction in humans and mice.

Developmental switch dichotomizes kidney response to NPHP3 inactivation and treatment outcome

This study generates two mouse models of nephronophthisis by inactivating Nphp3 at different developmental stages, revealing distinct disease mechanisms and treatment responses.

A cilia-dependent inflammatory programme links bacterial detection to kidney disease

The paper shows primary cilia on kidney tubular cells initiate a fibro-inflammatory program in response to bacterial components, linking pathogen detection to kidney disease progression.

COBT: A gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

COBT is a gene-based rare variant burden test for case-only studies that outperforms existing methods and identifies novel candidate variants in rare diseases.

The primary cilium controls programmed cell death via its proteasome-regulating function

The paper shows that primary cilia regulate programmed cell death by controlling the proteasomal degradation of MOAP1 through ciliopathy proteins like RPGRIP1L, TCTN1, and CEP290.

Evaluation of Prostaglandin Receptor Agonists and Eupatilin in the Context of Nephronophthisis

This study evaluates prostaglandin receptor agonists and eupatilin for their ability to rescue ciliogenesis defects and reduce cyst size in nephronophthisis models.

Intraflagellar transport protein IFT172 contains a C-terminal ubiquitin-binding U-box-like domain involved in ciliary signaling

This study identifies a U-box-like domain in IFT172 that mediates ciliary signaling and protein stability, linking it to ciliopathy pathogenesis.

The ANKS3/BICC1 protein complex is a master post-transcriptional regulator of NPHP1 ciliopathy gene transcripts

The paper identifies ANKS3/BICC1 as a post-transcriptional regulator of NPHP1 transcripts, linking it to ciliopathy phenotypes through transcript decay and ciliary dysfunction.