Pathogenic FAM83G palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling.

Background: Two recessive mutations in the FAM83G gene, causing A34E and R52P amino acid substitutions in the DUF1669 domain of the PAWS1 protein, are associated with palmoplantar keratoderma (PPK) in humans and dogs respectively. We have previously reported that PAWS1 associates with the Ser/Thr pr...

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Pubblicato in:Wellcome Open Res
Autori principali: Wu, Kevin Z.L., Jones, Rebecca A., Tachie-Menson, Theresa, Macartney, Thomas J., Wood, Nicola T., Varghese, Joby, Gourlay, Robert, Soares, Renata F., Smith, James C., Sapkota, Gopal P.
Natura: Artigo
Lingua:Inglês
Pubblicazione: F1000 Research Limited 2020
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6798324/
https://ncbi.nlm.nih.gov/pubmed/31656861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/wellcomeopenres.15403.2
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