Increased Protein Stability of CDKN1C Causes a Gain-of-Function Phenotype in Patients with IMAGe Syndrome

Mutations in the proliferating cell nuclear antigen (PCNA)-binding domain of the CDKN1C gene were recently identified in patients with IMAGe syndrome. However, loss of PCNA binding and suppression of CDKN1C monoubiquitination by IMAGe-associated mutations hardly explain the reduced-growth phenotype...

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Detalles Bibliográficos
Autores principales: Hamajima, Naoki, Johmura, Yoshikazu, Suzuki, Satoshi, Nakanishi, Makoto, Saitoh, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787065/
https://www.ncbi.nlm.nih.gov/pubmed/24098681
http://dx.doi.org/10.1371/journal.pone.0075137

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3787065/
https://www.ncbi.nlm.nih.gov/pubmed/24098681
http://dx.doi.org/10.1371/journal.pone.0075137

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