Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an
autosomal recessively inherited retinal disorder that affects the cones of the retina, the type …

The endoplasmic reticulum (ER) is the primary intracellular organelle responsible for protein
and lipid biosynthesis, protein folding and trafficking, calcium homeostasis, and several …

Achromatopsia (ACHM) is an early-onset retinal dystrophy characterized by photophobia,
nystagmus, color blindness and severely reduced visual acuity. Currently mutations in five …

Photoreceptors in the retina are highly specialized neurons with photosensitive molecules in
the outer segment that transform light into chemical and electrical signals, and these signals …

Achromatopsia is a genetic disorder of cones, and one of the most common forms is a
channelopathy caused by mutations in the β-subunit, CNGB3, of the cone cyclic nucleotide …

Photoreceptor cyclic nucleotide-gated (CNG) channels regulate Ca2+ influx in rod and cone
photoreceptors. cGMP, the native ligand of the photoreceptor CNG channels, has been …

Cyclic-GMP is a second messenger in phototransduction, a G-protein signaling cascade that
conveys photon absorption by rhodopsin to a change in current at the rod photoreceptor …

Diabetic retinopathy was included by the World Health Organization in the eye disease
priority list. Up to now, only proliferative diabetic retinopathy can be treated with approved …

Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease with a poorly
understood cause and no effective treatment. Given that calpains mediate …

Methylglyoxal (MG) is a reactive dicarbonyl compound, whose abnormal accumulation in
diabetic patients exerts deleterious effects on cells and tissues. The β-cell is the main target …