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Multiomics analyses reveal early metabolic imbalance and mitochondrial stress in neonatal photoreceptors leading to cell death in Pde6b(rd1/rd1) mouse model of retinal degeneration

Jiang, K; Mondal, AK; Adlakha, YK; Gumerson, J; Aponte, A; Gieser, L; Kim, JW; Boleda, A; Brooks, MJ; Nellissery, J; Fox, DA; Balaban, R; Covian, R; Swaroop, A

Swaroop, A (通讯作者),NEI, Neurobiol Neurodegenerat & Repair Lab, NIH, 6 Ctr Dr, Bethesda, MD 20892 USA.

HUMAN MOLECULAR GENETICS, 2022; 31 (13): 2137

Abstract

Retinal diseases exhibit extensive genetic heterogeneity and complex etiology with varying onset and severity. Mutations in over 200 genes can lead to......

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