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Article

A thermosensitive PCNA allele underlies an ataxia-telangiectasia-like disorder.

The Journal of biological chemistry - 1 May 2023

Magrino Joseph, Munford Veridiana, Martins Davi Jardim, Homma Thais K, Page Brendan, Gaubitz Christl, Freire Bruna L, Lerario Antonio M, Vilar Juliana Brandstetter, Amorin Antonio, Leão Emília K E, Kok Fernando, Menck Carlos Fm, Jorge Alexander Al, Kelch Brian A

Abstract excerpt

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 rare DNA repair disorder known as PCNA-associated DNA repair disorder (PARD). PARD symptoms range from UV sensitivity,...

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Identifiers

PMID: 36990216
DOI: 10.1016/j.jbc.2023.104656
PMCID: PMC10165274

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