The medaka alg2 mutant is a model for hypo-N-glycosylation-associated retinitis pigmentosa

• Published in: bioRxiv
• Main Authors: Sevinç Gücüm, Sakson, Roman, Hoffmann, Marcus, Grote, Valerian, Beedgen, Lars, Thiel, Christian, Rapp, Erdmann, Ruppert, Thomas, Wittbrodt, Joachim, Thumberger, Thomas
• Format: Paper
• Language: English
• Published: Cold Spring Harbor Cold Spring Harbor Laboratory Press 24.08.2020
• Subjects: Fibroblasts; Genomes; Glycosylation; mRNA; Mutants; Mutation; N-glycans; Phenotypes; Photoreceptors; Phototransduction; Polysaccharides; Retinitis; Retinitis pigmentosa

Patients suffering from Congenital Disorders of Glycosylation (CDG) carry mutations in components of the evolutionarily highly conserved protein-glycosylation-machinery. Employing targeted genome editing, we modeled alleles in medaka fish based on a mutation described in an ALG2-index patient. The m...