Article
Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
The CRISPR journal - 1 Feb 2023
Leclerc Delphine, Goujon Louise, Jaillard Sylvie, Nouyou Bénédicte, Cluzeau Laurence, Damaj Léna, Dubourg Christèle, Etcheverry Amandine, Levade Thierry, Froissart Roseline, Dréano Stéphane, Guillory Xavier, Eriksson Leif A, Launay Erika, Mouriaux Frédéric, Belaud-Rotureau Marc-Antoine, Odent Sylvie, Gilot David
Abstract excerpt
Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in GLB1 gene. These variants result in reduced β-galactosidase (β-gal) activity, leading to neurodegeneration associated with premature death. Currently, no effective therapy for GM1 gangliosidosis is available. Three ongoing clinical trials aim to deliver a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.