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

C Zeitz, AG Robson, I Audo - Progress in retinal and eye research, 2015 - Elsevier
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically
heterogeneous retinal disorders. Seventeen different genes with more than 360 different …

The transduction cascade in retinal ON-bipolar cells: signal processing and disease

KA Martemyanov, AP Sampath - Annual review of vision …, 2017 - annualreviews.org
Our robust visual experience is based on the reliable transfer of information from our
photoreceptor cells, the rods and cones, to higher brain centers. At the very first synapse of …

Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer

J Ou, C Vijayasarathy, L Ziccardi… - The Journal of …, 2015 - Am Soc Clin Investig
Strategies aimed at invoking synaptic plasticity have therapeutic potential for several
neurological conditions. The human retinal synaptic disease X-linked retinoschisis (XLRS) is …

A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites

JN Pearring, P Bojang, Y Shen, C Koike… - Journal of …, 2011 - Soc Neuroscience
Expression of channels to specific neuronal sites can critically impact their function and
regulation. Currently, the molecular mechanisms underlying this targeting and intracellular …

Differential loss and preservation of glutamate receptor function in bipolar cells in the rd10 mouse model of retinitis pigmentosa

T Puthussery, J Gayet‐Primo, S Pandey… - European Journal of …, 2009 - Wiley Online Library
Photoreceptor degenerations can trigger morphological alterations in second‐order
neurons, however, the functional implications of such changes are not well known. We …

Constitutive and synaptic activation of GIRK channels differentiates mature and newborn dentate granule cells

JC Gonzalez, SA Epps, SJ Markwardt… - Journal of …, 2018 - Soc Neuroscience
Sparse neural activity in the dentate gyrus is enforced by powerful networks of inhibitory
GABAergic interneurons in combination with low intrinsic excitability of the principal …

GPR179 is required for high sensitivity of the mGluR6 signaling cascade in depolarizing bipolar cells

TA Ray, KM Heath, N Hasan, JM Noel… - Journal of …, 2014 - Soc Neuroscience
Parallel visual pathways are initiated at the first retinal synapse by signaling between the rod
and cone photoreceptors and two general classes of bipolar cells. For normal function, ON …

[HTML][HTML] Targeting mGluR group III for the treatment of neurodegenerative diseases

N Rabeh, B Hajjar, JO Maraka… - Biomedicine & …, 2023 - Elsevier
Glutamate, an excitatory neurotransmitter, is essential for neuronal function, and it acts on
ionotropic or metabotropic glutamate receptors (mGluRs). A disturbance in glutamatergic …

LRIT 3 is essential to localize TRPM 1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation

M Neuillé, CW Morgans, Y Cao, E Orhan… - European Journal of …, 2015 - Wiley Online Library
Mutations in LRIT 3 lead to complete congenital stationary night blindness (cCSNB). The
exact role of LRIT 3 in ON‐bipolar cell signaling cascade remains to be elucidated …

Retina-specific GTPase accelerator RGS11/Gβ5S/R9AP is a constitutive heterotrimer selectively targeted to mGluR6 in ON-bipolar neurons

Y Cao, I Masuho, H Okawa, K Xie, J Asami… - Journal of …, 2009 - Soc Neuroscience
Members of the R7 family of the regulators of G-protein signaling (R7 RGS) proteins form
multi-subunit complexes that play crucial roles in processing the light responses of retinal …