FAM111 protease activity undermines cellular fitness and is amplified by gain‐of‐function mutations in human disease

Dominant missense mutations in the human serine protease FAM111A underlie perinatally lethal gracile bone dysplasia and Kenny–Caffey syndrome, yet how FAM111A mutations lead to disease is not known. We show that FAM111A proteolytic activity suppresses DNA replication and transcription by displacing...

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Detalles Bibliográficos
Autores principales: Hoffmann, Saskia, Pentakota, Satyakrishna, Mund, Andreas, Haahr, Peter, Coscia, Fabian, Gallo, Marta, Mann, Matthias, Taylor, Nicholas MI, Mailand, Niels
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7534640/
https://www.ncbi.nlm.nih.gov/pubmed/32776417
http://dx.doi.org/10.15252/embr.202050662

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