Publications and ressources

Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.

Matias Simons, Gwenn Le Meur

Source : Cell Rep

2019 Dec 25

Pmid : 31875549

Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.

Corinne Antignac, Matias Simons, Patrick Nitschké, Christine Bole, Olivier Gribouval, Olivia Boyer

Source : J. Clin. Invest.

2019 Dec 3

Pmid : 31613795

The Benefits of Tubular Proteinuria: An Evolutionary Perspective.

Matias Simons

Source : J. Am. Soc. Nephrol.

2019 Sep 17

Pmid : 29371418

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.

Claude Besmond, Matias Simons, Stanislas Lyonnet, Arnold Munnich, Nathalie Boddaert, Marlène Rio

Source : J. Med. Genet.

2019 Aug 25

Pmid : 31439720

Filling the Gap: Drosophila Nephrocytes as Model System in Kidney Research.

Matias Simons, Zvonimir Marelja

Source : J. Am. Soc. Nephrol.

2019 Jul 3

Pmid : 30910933

Mutations in ATP6AP2 cause autophagic liver disease in humans.

Matias Simons

Source : Autophagy

2019 Jun 28

Pmid : 29388887

A novel rare CUBN variant and three additional genes identified in Europeans with and without diabetes: results from an exome-wide association study of albuminuria.

Matias Simons

Source : Diabetologia

2019 Jun 25

Pmid : 30547231

U-Net: deep learning for cell counting, detection, and morphometry.

Matias Simons

Source : Nat. Methods

2019 Jun 24

Pmid : 30559429

ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.

Matias Simons

Source : Mol. Biol. Cell

2019 Apr 25

Pmid : 29995586

Vacuolar ATPase is required for ERK-dependent wound healing in the Drosophila embryo.

Matias Simons

Source : Wound Repair Regen

2018 Oct 11

Pmid : 29418044

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Matias Simons, Corinne Antignac, Christine Bole

Source : PLoS Genet.

2018 Jun 26

Pmid : 29768408

Using Drosophila nephrocytes in genetic kidney disease.

Matias Simons

Source : Cell Tissue Res.

2018 Mar 15

Pmid : 28401308

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.

Matias Simons

Source : J. Exp. Med.

2017 Dec 19

Pmid : 29127204

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.

Nadia Bahi-Buisson, Sophie Thomas, Matias Simons, Vincent Cantagrel, Meriem Garfa-Traoré , Patrick Nitschké, Tania Attié-Bitach

Source : Brain

2017 Oct 6

Pmid : 28969387

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.

Corinne Antignac, Matias Simons, Christelle Arrondel, Olivier Gribouval, Olivia Boyer

Source : J. Clin. Invest.

2017 Sep 8

Pmid : 28165339