Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics

LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation

(2015) Marion Neuillé et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Mistrafficking of prenylated proteins causes retinitis pigmentosa 2

(2015) Houbin Zhang et al.   FASEB JOURNAL

Rac1 plays an essential role in axon growth and guidance and in neuronal survival in the central and peripheral nervous systems

(2015) Zhong L. Hua et al.   Neural Development

Contactin-4 Mediates Axon-Target Specificity and Functional Development of the Accessory Optic System

(2015) Jessica A. Osterhout et al.   NEURON

Transcription factor PRDM8 is required for rod bipolar and type 2 OFF-cone bipolar cell survival and amacrine subtype identity

(2015) Cynthia C. Jung et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

(2015) Christina Zeitz et al.   PROGRESS IN RETINAL AND EYE RESEARCH

APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans

(2015) Andrei V. Tkatchenko et al.   PLoS Genetics

A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness

(2015) Mineo Kondo et al.   PLoS One

GPR179 Is Required for High Sensitivity of the mGluR6 Signaling Cascade in Depolarizing Bipolar Cells

(2014) T. A. Ray et al.   JOURNAL OF NEUROSCIENCE

Differential role of APP and APLPs for neuromuscular synaptic morphology and function

(2014) Maja Klevanski et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

(2014) Marion Neuillé et al.   PLoS One

Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2

(2013) Dagmar Knoflach et al.   Channels

Dysregulation of Cav1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2

(2013) Xiaoni Liu et al.   Channels

Bhlhb5is required for the subtype development of retinal amacrine and bipolar cells in mice

(2013) Liang Huang et al.   DEVELOPMENTAL DYNAMICS

Redundancy and divergence in the amyloid precursor protein family

(2013) S. Ali M. Shariati et al.   FEBS LETTERS

APLP2 regulates neuronal stem cell differentiation during cortical development

(2013) S. A. M. Shariati et al.   JOURNAL OF CELL SCIENCE

Structural organization and function of mouse photoreceptor ribbon synapses involve the immunoglobulin protein synaptic cell adhesion molecule 1

(2013) Adema Ribic et al.   JOURNAL OF COMPARATIVE NEUROLOGY

An Update of DIVERGE Software for Functional Divergence Analysis of Protein Family

(2013) Xun Gu et al.   MOLECULAR BIOLOGY AND EVOLUTION

Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness

(2013) Mieke M.C. Bijveld et al.   OPHTHALMOLOGY

Calcium Channel-Dependent Molecular Maturation of Photoreceptor Synapses

(2013) Nawal Zabouri et al.   PLoS One

Effects of mGluR6-deficiency on photoreceptor ribbon synapse formation: Comparison of electron microscopic analysis of serial sections with random sections

(2013) YOSHIHIKO TSUKAMOTO et al.   VISUAL NEUROSCIENCE

Physiological Functions of APP Family Proteins

(2013) U. C. Muller et al.   Cold Spring Harbor Perspectives in Medicine

Presenilins and  -Secretase: Structure, Function, and Role in Alzheimer Disease

(2013) B. De Strooper et al.   Cold Spring Harbor Perspectives in Medicine

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2012) Christina Zeitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical characterisation of theCABP4-related retinal phenotype

(2012) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene

(2012) A Vincent et al.   EYE

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

Autofluorescence Imaging and Spectral-Domain Optical Coherence Tomography in Incomplete Congenital Stationary Night Blindness and Comparison With Retinitis Pigmentosa

(2011) Royce W.S. Chen et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Comparative transcriptome profiling of amyloid precursor protein family members in the adult cortex

(2011) Dorothee Aydin et al.   BMC GENOMICS

A Role for Nyctalopin, a Small Leucine-Rich Repeat Protein, in Localizing the TRP Melastatin 1 Channel to Retinal Depolarizing Bipolar Cell Dendrites

(2011) J. N. Pearring et al.   JOURNAL OF NEUROSCIENCE

Neuroligin-4 is localized to glycinergic postsynapses and regulates inhibition in the retina

(2011) M. Hoon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functions of the APP gene family in the nervous system: insights from mouse models

(2011) Dorothee Aydin et al.   EXPERIMENTAL BRAIN RESEARCH

APP involvement in retinogenesis of mice

(2010) Virginie Dinet et al.   ACTA NEUROPATHOLOGICA

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2009) Isabelle Audo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

(2009) Zheng Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ectopic synaptic ribbons in dendrites of mouse retinal ON- and OFF-bipolar cells

(2009) Masaaki Ishii et al.   CELL AND TISSUE RESEARCH

Neuroligin 2 Controls the Maturation of GABAergic Synapses and Information Processing in the Retina

(2009) M. Hoon et al.   JOURNAL OF NEUROSCIENCE

A Transient Receptor Potential-Like Channel Mediates Synaptic Transmission in Rod Bipolar Cells

(2009) Y. Shen et al.   JOURNAL OF NEUROSCIENCE

Retina-Specific GTPase Accelerator RGS11/G 5S/R9AP Is a Constitutive Heterotrimer Selectively Targeted to mGluR6 in ON-Bipolar Neurons

(2009) Y. Cao et al.   JOURNAL OF NEUROSCIENCE

DSCAM and DSCAML1 Function in Self-Avoidance in Multiple Cell Types in the Developing Mouse Retina

(2009) Peter G. Fuerst et al.   NEURON

TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells

(2009) Catherine W. Morgans et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade

(2009) C. Koike et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Interaction of amyloid precursor protein with contactins and NgCAM in the retinotectal system

(2008) M. Osterfield et al.   DEVELOPMENT

Identification of molecular markers of bipolar cells in the murine retina

(2008) Douglas S. Kim et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Identification of the Alzheimer's disease amyloid precursor protein (APP) and its homologue APLP2 as essential modulators of glucose and insulin homeostasis and growth

(2008) BE Needham et al.   JOURNAL OF PATHOLOGY