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

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Sc65-Null Mice Provide Evidence for a Novel Endoplasmic Reticulum Complex Regulating Collagen Lysyl Hydroxylation

(2016) Melissa E. Heard et al.   PLoS Genetics

Trimeric Intracellular Cation Channels and Sarcoplasmic/Endoplasmic Reticulum Calcium Homeostasis

(2014) Xinyu Zhou et al.   CIRCULATION RESEARCH

Lysine post-translational modifications of collagen

(2014) Mitsuo Yamauchi et al.   Essays in Biochemistry

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

(2014) Elisa Rubinato et al.   GENE

Key Components of Store-Operated Ca2+ Entry in Non-Excitable Cells

(2014) Yosuke Tojyo et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

Abnormal Type I Collagen Post-translational Modification and Crosslinking in a Cyclophilin B KO Mouse Model of Recessive Osteogenesis Imperfecta

(2014) Wayne A. Cabral et al.   PLoS Genetics

A molecular ensemble in the rER for procollagen maturation

(2013) Yoshihiro Ishikawa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Sarcoplasmic Reticulum K+ (TRIC) Channel Does Not Carry Essential Countercurrent during Ca2+ Release

(2013) Tao Guo et al.   BIOPHYSICAL JOURNAL

Collagen prolyl 3-hydroxylation: a major role for a minor post-translational modification?

(2013) David M. Hudson et al.   CONNECTIVE TISSUE RESEARCH

The Unfolded Protein Response in Secretory Cell Function

(2012) Kristin A. Moore et al.   Annual Review of Genetics

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

(2012) U. Schwarze et al.   HUMAN MOLECULAR GENETICS

Mutation in Cyclophilin B That Causes Hyperelastosis Cutis in American Quarter Horse Does Not Affect Peptidylprolylcis-transIsomerase Activity but Shows Altered Cyclophilin B-Protein Interactions and Affects Collagen Folding

(2012) Yoshihiro Ishikawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation

(2012) Ranad Shaheen et al.   JOURNAL OF MEDICAL GENETICS

An Interaction Map of Endoplasmic Reticulum Chaperones and Foldases

(2012) Gregor Jansen et al.   MOLECULAR & CELLULAR PROTEOMICS

Structural basis of fibrillar collagen trimerization and related genetic disorders

(2012) Jean-Marie Bourhis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Endoplasmic reticulum stress or mutation of an EF-hand Ca2+-binding domain directs the FKBP65 rotamase to an ERAD-based proteolysis

(2011) Lindsey A. Murphy et al.   CELL STRESS & CHAPERONES

Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes

(2011) Shawna M. Pyott et al.   HUMAN MOLECULAR GENETICS

Pannexin 3 functions as an ER Ca2+channel, hemichannel, and gap junction to promote osteoblast differentiation

(2011) Masaki Ishikawa et al.   JOURNAL OF CELL BIOLOGY

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Endoplasmic-Reticulum Calcium Depletion and Disease

(2011) D. Mekahli et al.   Cold Spring Harbor Perspectives in Biology

Charade of the SR K+-Channel: Two Ion-Channels, TRIC-A and TRIC-B, Masquerade as a Single K+-Channel

(2010) Samantha J. Pitt et al.   BIOPHYSICAL JOURNAL

Intracellular Calreticulin Regulates Multiple Steps in Fibrillar Collagen Expression, Trafficking, and Processing into the Extracellular Matrix

(2010) Lauren Van Duyn Graham et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

(2010) Aileen M. Barnes et al.   NEW ENGLAND JOURNAL OF MEDICINE

Essential role of the TRIC-B channel in Ca2+ handling of alveolar epithelial cells and in perinatal lung maturation

(2009) D. Yamazaki et al.   DEVELOPMENT

Inositol trisphosphate and calcium signalling mechanisms

(2008) Michael J. Berridge   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Intracellular Calcium Release Channels Mediate Their Own Countercurrent: The Ryanodine Receptor Case Study

(2008) Dirk Gillespie et al.   BIOPHYSICAL JOURNAL