A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Prolyl 3-hydroxylase 1 (P3H1), encoded by the LEPRE1 gene, forms a molecular complex with cartilage-associated protein (CRTAP) and cyclophilin B (encoded by PPIB) in the endoplasmic reticulum (ER). This complex is responsible for one step in collagen post-translational modification, the prolyl 3-hyd...

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Detalles Bibliográficos
Autores principales: Takagi, Masaki, Ishii, Tomohiro, Barnes, Aileen M., Weis, MaryAnn, Amano, Naoko, Tanaka, Mamoru, Fukuzawa, Ryuji, Nishimura, Gen, Eyre, David R., Marini, Joan C., Hasegawa, Tomonobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3352923/
https://www.ncbi.nlm.nih.gov/pubmed/22615817
http://dx.doi.org/10.1371/journal.pone.0036809

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