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Hyaline Fibromatosis Syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors

Hyaline Fibromatosis Syndrome (HFS) is a human genetic disease caused by mutations in the anthrax toxin receptor 2 (or cmg2) gene, which encodes a membrane protein thought to be involved in the homeostasis of the extracellular matrix. Little is known about the structure and function of the protein o...

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Detalles Bibliográficos
Autores principales: Deuquet, Julie, Lausch, Ekkehart, Guex, Nicolas, Abrami, Laurence, Salvi, Suzanne, Lakkaraju, Asvin, Ramirez, Maria Celeste M, Martignetti, John A, Rokicki, Dariusz, Bonafe, Luisa, Superti-Furga, Andrea, van der Goot, Françoise G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: WILEY-VCH Verlag 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377065/
https://www.ncbi.nlm.nih.gov/pubmed/21328543
http://dx.doi.org/10.1002/emmm.201100124