Robuta

https://pubmed.ncbi.nlm.nih.gov/26052878/?dopt=Abstract
We identified a second CMS kinship harboring mutations in LRP4, identified the mechanisms that impair neuromuscular transmission, and mitigated the disease by...
synaptic developmentneuromuscular transmissionimpairedmaintenancerelated
https://pubmed.ncbi.nlm.nih.gov/23904491/
The principal inhibitory neurotransmitter in the mammalian cochlear nucleus (CN) is glycine. During age-related hearing loss (AHL), glycinergic inhibition...
synaptic transmissionin thecochlear nucleusof miceglycinergic
https://www.frontiersin.org/journals/cellular-neuroscience/articles/10.3389/fncel.2019.00426/full
Axonopathy is a hallmark of many neurodegenerative diseases including glaucoma, where elevated intraocular pressure (ocular hypertension, OHT) stresses retin...
retinal ganglion cellearly stageocular hypertensionfrontiersalters
https://elifesciences.org/articles/66898
A postsynaptic, intracellular, scaffolding protein is necessary to build neuronal gap junctions, revealing an unanticipated complexity of molecular and...
synaptic transmissionscaffolding proteinelectricalpostsynapticelife
https://elifesciences.org/articles/22904
MCTP is a novel presynaptic calcium sensor, resident within the endoplasmic reticulum, that is required for normal baseline neurotransmission, short-term...
mctperresidentcalciumsensor
https://elifesciences.org/articles/28685/figures
Impaired GABAergic and glutamatergic synaptic function and loss of interneurons in the amygdala, hippocampus, and cerebellum cause characteristic disease...
synaptic transmissionfiguresdatadefectivecauses