Publications and ressources

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

Matias Simons, Gwenn Le Meur

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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

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The Benefits of Tubular Proteinuria: An Evolutionary Perspective.

Matias Simons

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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

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

Matias Simons, Zvonimir Marelja

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Mutations in ATP6AP2 cause autophagic liver disease in humans.

Matias Simons

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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

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

Matias Simons

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

Matias Simons

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

Matias Simons

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

Matias Simons, Corinne Antignac, Christine Bole

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Using Drosophila nephrocytes in genetic kidney disease.

Matias Simons

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

Matias Simons

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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

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

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

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