Resources

Novel lentiviral vectors for gene therapy of sickle cell disease combining gene addition and gene silencing strategies.

Mégane Brusson, Anne Chalumeau, Pierre Martinucci, Oriana Romano, Tristan Felix, Sophie Ramadier, Marina Cavazzana, Annarita Miccio

Source :

Pmid / DOI:

Aberrant survival of hippocampal Cajal-Retzius cells leads to memory deficits, gamma rhythmopathies and susceptibility to seizures in adult mice

Alessandra Pierani, Martina Riva, Patrick Azzam, Francesco Dori

Source :

Pmid / DOI:

Activation of the PI3K/AKT/mTOR Pathway in Cajal-Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures

Nasim Ramezanidoraki, Driss EL-OUARDI, Nadia Bahi-Buisson, Alessandra Pierani, Pierre Billuart

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Letizia Fontana, Annarita Miccio , Panagiotis Antoniou

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Jean-Michel Rozet, Isabelle PERRAULT

Source :

Pmid / DOI:

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

Jean-Michel Rozet

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Mégane Brusson, Annarita Miccio

Source :

Pmid / DOI:

The renal inflammatory network of nephronophthisis.

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

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

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

Source :

Pmid / DOI:

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

Source :

Pmid / DOI:

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

Source :

Pmid / DOI: