Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation.

doi:10.1016/j.stemcr.2024.06.002

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Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation.

Stem cell reports - 13 Aug 2024

Tsikandelova Rozaliya, Galo Eldo, Cerniauskas Edvinas, Hallam Dean, Georgiou Maria, Cerna-Chavez Rodrigo, Atkinson Robert, Palmowski Pavel, Burté Florence, Davies Tracey, Steel David H, McKibbin Martin, Bond Jacquelyn, Haggarty Jennifer, Whitfield Phil, Korolchuk Viktor, Armstrong Lyle, Yang Chunbo, Dorgau Birthe, Kurzawa-Akanbi Marzena, Lako Majlinda

Abstract excerpt

Biallelic mutations in DRAM2 lead to an autosomal recessive cone-rod dystrophy known as CORD21, which typically presents between the third and sixth decades of life. Although DRAM2 localizes to the lysosomes of photoreceptor and retinal pigment epithelium (RPE) cells, its specific role in retinal degeneration has not been fully elucidated. In this study, we generated and characterized retinal organoids (ROs) and...

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PMID: 38964324
DOI: 10.1016/j.stemcr.2024.06.002
PMCID: PMC11368688

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