Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta

Recessive osteogenesis imperfecta (OI) is caused by defects in proteins involved in post-translational interactions with type I collagen. Recently, a novel form of moderately severe OI caused by null mutations in TMEM38B was identified. TMEM38B encodes the ER membrane monovalent cation channel, TRIC...

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Détails bibliographiques
Publié dans:PLoS Genet
Auteurs principaux: Cabral, Wayne A., Ishikawa, Masaki, Garten, Matthias, Makareeva, Elena N., Sargent, Brandi M., Weis, MaryAnn, Barnes, Aileen M., Webb, Emma A., Shaw, Nicholas J., Ala-Kokko, Leena, Lacbawan, Felicitas L., Högler, Wolfgang, Leikin, Sergey, Blank, Paul S., Zimmerberg, Joshua, Eyre, David R., Yamada, Yoshihiko, Marini, Joan C.
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2016
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4956114/
https://ncbi.nlm.nih.gov/pubmed/27441836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006156
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