Pathogenic FAM83G palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling. [version 1; peer review: 2 approved]

Pathogenic FAM83G palmoplantar keratoderma mutations inhibit the PAWS1:CK1α association and attenuate Wnt signalling. [version 1; peer review: 2 approved]

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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Bibliographic Details
Main Authors: Kevin Z.L. Wu, Rebecca A. Jones, Theresa Tachie-Menson, Thomas J. Macartney, Nicola T. Wood, Joby Varghese, Robert Gourlay, Renata F. Soares, James C. Smith, Gopal P. Sapkota
Format: Article
Language:English
Published: Wellcome 2019-09-01
Series:Wellcome Open Research
Online Access:https://wellcomeopenresearch.org/articles/4-133/v1

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