The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2012) Isabelle Audo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transcriptional code and disease map for adult retinal cell types

(2012) Sandra Siegert et al.   NATURE NEUROSCIENCE

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Amyloid Precursor Protein Is Required for Normal Function of the Rod and Cone Pathways in the Mouse Retina

(2012) Tracy Ho et al.   PLoS One

Calpain-5 Mutations Cause Autoimmune Uveitis, Retinal Neovascularization, and Photoreceptor Degeneration

(2012) Vinit B. Mahajan et al.   PLoS Genetics

BRI2 Protein Regulates β-Amyloid Degradation by Increasing Levels of Secreted Insulin-degrading Enzyme (IDE)

(2011) Ellen Kilger et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functions of Aβ, sAPPα and sAPPβ : similarities and differences

(2011) Stéphanie Chasseigneaux et al.   JOURNAL OF NEUROCHEMISTRY

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

(2010) Dikla Bandah-Rozenfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

The extracellular domain of Bri2 (ITM2B) binds the ABri peptide (1–23) and amyloid β-peptide (Aβ1–40): Implications for Bri2 effects on processing of amyloid precursor protein and Aβ aggregation

(2009) Siwei Peng et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

An alternative genotyping method using dye-labeled universal primer to reduce unspecific amplifications

(2009) Maurício Papa de Arruda et al.   MOLECULAR BIOLOGY REPORTS

Maturation of BRI2 generates a specific inhibitor that reduces APP processing at the plasma membrane and in endocytic vesicles

(2009) Shuji Matsuda et al.   NEUROBIOLOGY OF AGING

Molecular Mechanisms Controlling Midline Crossing by Precerebellar Neurons

(2008) T. Di Meglio et al.   JOURNAL OF NEUROSCIENCE

BRI2 Inhibits Amyloid  -Peptide Precursor Protein Processing by Interfering with the Docking of Secretases to the Substrate

(2008) S. Matsuda et al.   JOURNAL OF NEUROSCIENCE

BRI2 (ITM2b) Inhibits A  Deposition In Vivo

(2008) J. Kim et al.   JOURNAL OF NEUROSCIENCE

The Negative ERG: Clinical Phenotypes and Disease Mechanisms of Inner Retinal Dysfunction

(2008) Isabelle Audo et al.   SURVEY OF OPHTHALMOLOGY