Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Fibroblast
DISEASE(S): Syndrome
SUBMITTER: Song Bin
LAB HEAD: Zheng Jie
PROVIDER: PXD031831 | Pride | 2022-08-12
REPOSITORIES: Pride
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Lei Yixuan Y Fei Panyu P Song Bin B Shi Wenjia W Luo Cheng C Luo Dahai D Li Dan D Chen Wei W Zheng Jie J
Nucleic acids research 20220601 10
DDX58 encodes RIG-I, a cytosolic RNA sensor that ensures immune surveillance of nonself RNAs. Individuals with RIG-IE510V and RIG-IQ517H mutations have increased susceptibility to Singleton-Merten syndrome (SMS) defects, resulting in tissue-specific (mild) and classic (severe) phenotypes. The coupling between RNA recognition and conformational changes is central to RIG-I RNA proofreading, but the molecular determinants leading to dissociated disease phenotypes remain unknown. Herein, we employed ...[more]