Article

Gain-of-function mutations amplify cytotoxic FAM111 protease activity in human genetic disorders

2020-03-16

Abstract excerpt

Dominant missense mutations in the human serine protease FAM111A underlie perinatally lethal gracile bone dysplasia and Kenny-Caffey syndrome 1–3 , yet how FAM111A mutations lead to disease is not known. We show that FAM111A proteolytic activity suppresses DNA replication and transcription by displacing key effectors of these processes from chromatin, triggering rapid programmed cell death by Caspase-dependent a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: bd6dc4ad-08f0-52ed-834b-3fdda16e7868
DOI: 10.1101/2020.03.16.993600

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Gain-of-function mutations amplify cytotoxic FAM111 protease activity in human genetic disordersDOI 10.1101/2020.03.16.993600Read

FAM111 protease activity undermines cellular fitness and is amplified by gain-of-function mutations in human disease.Semantic proximity Read

Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.Semantic proximity Read

Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma syndrome negatively regulates telomere lengthSemantic proximity Read

Activation of FAM111A Protease Induces Defects in Nuclear Function that Likely Underlie its Roles in Disease and Viral RestrictionSemantic proximity Read

Proposed Cellular Function of the Human FAM111B Protein and Dysregulation in Fibrosis and CancerSemantic proximity Read

FAM111A regulates replication origin activation and cell fitnessSemantic proximity Read

Functions and evolution of FAM111 serine proteasesSemantic proximity Read

FAM111A regulates replication origin activation and cell fitnessSemantic proximity Read

Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.Semantic proximity Read

A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.Semantic proximity Read

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.Semantic proximity Read

FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening.Semantic proximity Read