ArticleEMBO molecular medicine2023
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Article in EMBO molecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- RAF1 Promotes Gstt1-Mediated Ferroptosis by Promoting KDM1A Recruitment to Facilitate Pilocarpine-Induced Acute Seizure-Associated Neuronal Injury.CNS neuroscience & therapeutics · 2026Article
- HER2 deficiency causes a developmental disorder with growth retardation and craniofacial malformations.The Journal of clinical investigation · 2026Article
- Decoding the Evolution and Co-Phospho-Regulatory Networks of SHROOM Proteins.Journal of molecular evolution · 2026Article
- Functional characterisation of rare variants in genes encoding the MAPK/ERK signalling pathway identified in long-lived Leiden Longevity Study participants.GeroScience · 2026Article
- Modelling human genetic disorders in Xenopus tropicalis.Disease models & mechanisms · 2024Review
- Noonan syndrome: rhGH treatment and PTPN11 mutation.Molecular genetics & genomic medicine · 2023Article
- RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.EMBO molecular medicine · 2023Article
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Authors and funding
11 authors at 4 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic and germline gain-of-function point mutations in RAF, one of the first oncogenes to be discovered in humans, delineate a group of tumor-prone syndromes known as the RASopathies. In this study, we document the first human phenotype resulting from the germline loss-of-function of the proto-oncogene RAF1 (a.k.a. CRAF). In a consanguineous family, we uncovered a homozygous p.Thr543Met variant segregating with a neonatal lethal syndrome with cutaneous, craniofacial, cardiac, and limb anomalies. Structure-based prediction and functional tests using human knock-in cells showed that threonine 543 is essential to: (i) ensure RAF1's stability and phosphorylation, (ii) maintain its kinase activity toward substrates of the MAPK pathway, and (iii) protect from stress-induced apoptosis mediated by ASK1. In Xenopus embryos, mutant RAF1
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