Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that
affect genes encoding proteins that localize to primary cilia or centrosomes. With few …

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes for protein synthesis with
evolutionarily conserved enzymatic mechanisms. Despite their similarity across organisms …

Monogenic diseases are frequent causes of neonatal morbidity and mortality, and disease
presentations are often undifferentiated at birth. More than 3500 monogenic diseases have …

Usher syndrome (USH), clinically and genetically heterogeneous, is the leading genetic
cause of combined hearing and vision loss. USH is classified into three types, based on the …

Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

Dynamic regulation of mRNA translation initiation and elongation is essential for the survival
and function of neural cells. Global reductions in translation initiation resulting from …

The Aminoacyl-tRNA Synthetases (aaRSs) are an evolutionarily ancient family of enzymes
that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino …

Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …

Approximately 1% of the global population is affected by intellectual disability (ID), and the
majority receive no molecular diagnosis. Previous studies have indicated high levels of …

Photoreceptors are sensory neurons designed to convert light stimuli into neurological
responses. This process, called phototransduction, takes place in the outer segments (OS) …