Article

PCNA thermosensitivity underlies an Ataxia Telangiectasia-like disorder

2022-10-21

Abstract excerpt

<h4>SUMMARY</h4> Proliferating Cell Nuclear Antigen (PCNA) is a sliding clamp protein that coordinates DNA replication with various DNA maintenance events that are critical for human health. Recently, a hypomorphic homozygous serine to isoleucine (S228I) substitution in PCNA was described to underlie a DNA repair disorder known as PCNA-Associated DNA Repair Disorder (PARD). PARD symptoms range from UV sensitivity,...

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Literature Corpus work: 8c0051dc-a774-511e-96db-7a19ea3946f1
DOI: 10.1101/2022.10.20.22281069

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