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Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome
Ubiquitylation enzymes are involved in all aspects of eukaryotic biology and are frequently disrupted in disease. One example is the E3 ubiquitin ligase RNF12/RLIM, which is mutated in the developmental disorder Tønne-Kalscheuer syndrome (TOKAS). RNF12 TOKAS variants largely disrupt catalytic E3 ubi...
Autores principales: | Bustos, Francisco, Mathur, Sunil, Espejo-Serrano, Carmen, Toth, Rachel, Hastie, C James, Virdee, Satpal, Findlay, Greg M |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Life Science Alliance LLC
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240097/ https://www.ncbi.nlm.nih.gov/pubmed/35764390 http://dx.doi.org/10.26508/lsa.202101248 |
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