Naheed Kanuga
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View article: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids
Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids Open
Bialleleic pathogenic variants in LCA5 cause one of the most severe forms of Leber congenital amaurosis, an early-onset retinal disease that results in severe visual impairment. Here, we report the use of gene editing to generate isogenic …
View article: Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control
Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control Open
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View article: The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa
The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa Open
Mutations in rhodopsin, the light-sensitive protein of rod cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness caused by the dysfunction and death of photoreceptor cells. The P23H mutation,…
View article: Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration
Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration Open
Protein misfolding caused by inherited mutations leads to loss of protein function and potentially toxic 'gain of function', such as the dominant P23H rhodopsin mutation that causes retinitis pigmentosa (RP). Here, we tested whether the AM…