Article

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

2021-11-23

Abstract excerpt

Defects in primary or motile cilia result in a variety of human pathologies, and retinal degeneration is frequently associated with these so-called ciliopathies. We show that homozygosity for a truncating variant in CEP162, a centrosome and microtubule-associated protein required for transition zone (TZ) assembly during ciliogenesis and neuronal differentiation in the retina, causes late-onset retinitis pigmentosa...

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Literature Corpus work: bc752fad-a36e-5592-9f84-0cd0253971b5
DOI: 10.1101/2021.11.23.469779

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