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

Por 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.
Publicado no PLoS Genet (2016)

Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect

Por Webb, Emma A., Balasubramanian, Meena, Fratzl-Zelman, Nadja, Cabral, Wayne A., Titheradge, Hannah, Alsaedi, Atif, Saraff, Vrinda, Vogt, Julie, Cole, Trevor, Stewart, Susan, Crabtree, Nicola J., Sargent, Brandi M., Gamsjaeger, Sonja, Paschalis, Eleftherios P., Roschger, Paul, Klaushofer, Klaus, Shaw, Nick J., Marini, Joan C., Högler, Wolfgang
Publicado no J Clin Endocrinol Metab (2017)