Rapid degradation of progressive ankylosis protein (ANKH) in craniometaphyseal dysplasia

Mutations in the progressive ankylosis protein (NP_473368, human ANKH) cause craniometaphyseal dysplasia (CMD), characterized by progressive thickening of craniofacial bones and widened metaphyses in long bones. The pathogenesis of CMD remains largely unknown, and treatment for CMD is limited to sur...

Descripción completa

Detalles Bibliográficos
Autores principales: Kanaujiya, Jitendra, Bastow, Edward, Luxmi, Raj, Hao, Zhifang, Zattas, Dimitrios, Hochstrasser, Mark, Reichenberger, Ernst J., Chen, I-Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200807/
https://www.ncbi.nlm.nih.gov/pubmed/30356088
http://dx.doi.org/10.1038/s41598-018-34157-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6200807/
https://www.ncbi.nlm.nih.gov/pubmed/30356088
http://dx.doi.org/10.1038/s41598-018-34157-5

Ejemplares similares