ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality

The Arp2/3 complex drives the formation of branched actin networks that are essential for many cellular processes. In humans, the ARPC5 subunit of the Arp2/3 complex is encoded by two paralogous genes (ARPC5 and ARPC5L) with 67% identity. Through whole-exome sequencing, we identified a biallelic ARP...

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Detalles Bibliográficos
Autores principales: Sindram, Elena, Caballero-Oteyza, Andrés, Kogata, Naoko, Chor Mei Huang, Shaina, Alizadeh, Zahra, Gámez-Díaz, Laura, Fazlollhi, Mohammad Reza, Peng, Xiao, Grimbacher, Bodo, Way, Michael, Proietti, Michele
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387347/
https://www.ncbi.nlm.nih.gov/pubmed/37382373
http://dx.doi.org/10.1242/dmm.050145

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10387347/
https://www.ncbi.nlm.nih.gov/pubmed/37382373
http://dx.doi.org/10.1242/dmm.050145

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