Article

The medaka <i>alg2</i> mutant is a model for hypo- <i>N</i> -glycosylation-associated retinitis pigmentosa

2020-08-24

Abstract excerpt

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 multisystemic phenotypes in our alg2 model closely resembled the patient’s syndromes. Molecularly, the mutation resul...

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Literature Corpus work: d929bbd8-c55f-5eaf-9698-283912963503
DOI: 10.1101/2020.08.20.260430

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