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

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 repa...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2023
Materias:
Research Article Collection: Molecular Bases of Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10165274/
https://www.ncbi.nlm.nih.gov/pubmed/36990216
http://dx.doi.org/10.1016/j.jbc.2023.104656

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