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Lysosomal Targeting of Cystinosin Requires AP-3.

Corinne Antignac

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Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Aurélie Cobat

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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Jeanne Amiel, Chris Gordon, Stanislas Lyonnet, Patrick Nitschké, Loïc de Pontual, Damien Bonnet, Anne Guimier

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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Vincent Cantagrel, Stanislas Lyonnet

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Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Jean-Michel Rozet, Isabelle PERRAULT

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Actin Dynamics Regulates Dendritic Cell-Mediated Transfer of HIV-1 to T Cells.

Mickaël Ménager

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An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation.

Chantal LAGRESLE-PEYROU, Laëtitia Kermasson, Patrick Nitschké, Marina Cavazzana, Alain Fischer, Jean-Pierre De Villartay, Patrick Revy

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Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis.

Alain Fischer, Fernando Sepulveda , Geneviève de Saint Basile

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Flies With Skin Blisters.

Matias Simons

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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Isabelle PERRAULT, Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Meriem Garfa-Traoré , Jean-Michel Rozet

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IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Sophie Saunier, Valérie Cormier-Daire, Sophie Thomas, Tania Attié-Bitach, Nathalie Boddaert, Meriem Garfa-Traoré , Jean-Michel Rozet

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LYST controls the biogenesis of the endosomal compartment required for secretory lysosome function.

Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché, Alain Fischer

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Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.

Isabelle PERRAULT, Arnold Munnich, Jean-Michel Rozet

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V-ATPase/mTOR signaling regulates megalin-mediated apical endocytosis.

Matias Simons

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Céline Huber, Meriem Garfa-Traoré , Christine Bole, Patrick Nitschké, Françoise Clerget-Darpoux, Arnold Munnich, Stanislas Lyonnet, Sophie Saunier, Valérie Cormier-Daire, Tania Attié-Bitach, Sophie Thomas

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