Publications and ressources

Adenine base editor-mediated correction of the common and severe IVS1-110 (G>A) β-thalassemia mutation.

Giulia Hardouin, Panagiotis Antoniou, Pierre Martinucci, Tristan Felix, Marina Cavazzana, Annarita Miccio

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Epigenetic Regulation of β-Globin Genes and the Potential to Treat Hemoglobinopathies through Epigenome Editing.

Letizia Fontana, Annarita Miccio , Panagiotis Antoniou

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Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.

Giulia Ferri, Mélanie Parisot, Alexandre Benmerah , Sophie Saunier

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Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet, Isabelle PERRAULT

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Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet

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Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.

Panagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, Giacomo Frati, Tristan Felix, Anne Chalumeau, Letizia Fontana, Jeanne Martin, Mégane Brusson, Vincent Abramowski, Jean-Pierre De Villartay, Marina Cavazzana, Oriana Romano, Annarita Miccio

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CRISPRthripsis: The Risk of CRISPR/Cas9-induced Chromothripsis in Gene Therapy.

Mégane Brusson, Annarita Miccio

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The renal inflammatory network of nephronophthisis.

Marceau Quatredeniers, Giulia Ferri, Esther Porée, Katy Billot, Eléonore Birgy, Salomé Ceccarelli, Sophie Saunier, Amandine Viau

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Marion Coolen, Nami Altin, Karthyayani Rajamani , Giulia Barcia, Aurore POULIET, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Lydie Burglen, Vincent Cantagrel

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Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Hugo Garcia, Esther Porée, Amandine Viau, Katy Billot, Eléonore Birgy, Meriem Garfa-Traoré , Salomé Ceccarelli, Manon Mehraz, Corinne Antignac, Stanislas Lyonnet, Alexandre Benmerah , Sophie Saunier

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Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

Guillaume Dorval, Christelle Arrondel, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier, Laurence Heidet

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Human genetic and immunological determinants of critical COVID-19 pneumonia.

Qian Zhang, Paul Bastard, Aurélie Cobat, Jean-Laurent CASANOVA , Anna-Lena Neehus, Anne Puel, Bertrand Boisson, Daniela Matuozzo, Emmanuelle Jouanguy, Jean-Laurent CASANOVA , Jérémie Rosain, Jeremy Manry, Laurent Abel , Lucia Victoria Erazo, Quentin Philippot, Romain Levy, Shen-Ying Zhang, Stéphanie Boisson-Dupuis, Tom Le Voyer, Vivien Beziat

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Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: the HGB-205 trial.

Anne Chalumeau, Adeline DENIS, Bénédicte Neven, Emmanuelle SIX, Annarita Miccio , Marina Cavazzana

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Combination of lentiviral and genome editing technologies for the treatment of sickle cell disease.

Sophie Ramadier, Anne Chalumeau, Tristan Felix, Giacomo Frati, Mégane Brusson, Marina Cavazzana, Vasco Meneghini, Annarita Miccio

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Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges.

Annarita Miccio , Panagiotis Antoniou, Sorana CIURA, Edor Kabashi

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