Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2014

Patoine Alexa, Gaumond Marie-Hélène, Jaiswal Prashant K, Fassier François, Rauch Frank, Moffatt Pierre

Abstract excerpt

BRIL/IFITM5 is a membrane protein present almost exclusively in osteoblasts, which is believed to adopt a type III (N-out/C-out) topology. Mutations in IFITM5 cause OI type V, but the characteristics of the mutant protein and the mechanism involved are still unknown. The purpose of the current st...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to COP-Coated Vesicles
Share to Cysteine

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum

Share to Lipoylation

Share to Mutant Proteins

Share to Osteogenesis Imperfecta

Share to Protein Stability

Share to Protein Transport

Source

Identifiers

PMID: 24715519
DOI: 10.1002/jbmr.2243

Genes

IFITM5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24715519-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination.PMID 24715519Read ↗

The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts.Semantic proximity Read ↗

A brilliant breakthrough in OI type V.Semantic proximity Read ↗

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor.Semantic proximity Read ↗

Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice.Semantic proximity Read ↗

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.Semantic proximity Read ↗

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.Semantic proximity Read ↗

Regulation of the Bone-restricted IFITM-like (Bril) Gene Transcription by Sp and Gli Family Members and CpG MethylationSemantic proximity Read ↗

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphataseSemantic proximity Read ↗

Disorders of intracellular protein trafficking in human disease.Semantic proximity Read ↗

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

Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.Semantic proximity Read ↗

A common pathomechanism in GMAP-210- and LBR-related diseases.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.