Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

ABL1 is a proto-oncogene encoding a nonreceptor tyrosine kinase, best known in the somatic BCR-ABL fusion gene associated with chronic myeloid leukaemia. Recently, germline missense variants in ABL1 have been found to cause an autosomal dominant developmental syndrome with congenital heart disease,...

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Detalles Bibliográficos
Autores principales: Blakes, Alexander J. M., Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M., Bicknell, Louise S., Jackson, Meremaihi R., Wade, Emma M., Robertson, Stephen, White, Susan M., Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G. L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115115/
https://www.ncbi.nlm.nih.gov/pubmed/33223528
http://dx.doi.org/10.1038/s41431-020-00766-w

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