Article
HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress
2022-05-11
Abstract excerpt
<title>Abstract</title> <p>HERC2 gene encodes an E3 ubiquitin ligase involved in several cellular processes by regulating the ubiquitylation of different protein substrates. Biallelic pathogenic sequence variants in the HERC2 gene are associated with HERC2 Angelman-like syndrome. In pathogenic HERC2 variants, complete absence or marked reduction in HERC2 protein levels are observed. The most common pathological v...
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Identifiers and source
- Literature Corpus work
- 7c6070a2-f898-5d3e-8fc2-ee4e504122d5
- DOI
- 10.21203/rs.3.rs-1600424/v1
