Article
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
PLoS genetics - 1 Jul 2016
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
Abstract excerpt
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-B, proposed to counterbalance IP3R-mediated Ca2+ release from intracellular stores. The molecular mechanisms by...
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