Glaucoma is the major cause of irreversible blindness worldwide. Primary open-angle
glaucoma (POAG), as the most prevalent form of glaucoma, is a complex inherited disorder …

Paget disease of bone (PDB) is a common disease characterized by focal areas of
increased and disorganized bone turnover. Some patients are asymptomatic, whereas …

TANK-binding kinase 1 (TBK1) was identified as a putative binding partner for optineurin
(OPTN, also called NRP for NEMO-related protein) in two separate yeast two-hybrid screens …

Glaucoma is defined by characteristic optic nerve damage and corresponding visual field
defects and is the leading cause of irreversible blindness in the world. Elevated intraocular …

Optineurin is a gene linked to glaucoma, amyotrophic lateral sclerosis, other
neurodegenerative diseases, and Paget's disease of bone. This review describes the …

Optineurin (Optn) is a 577 aa protein encoded by the Optn gene. Mutations of Optn are
associated with normal tension glaucoma and amyotrophic lateral sclerosis, and its gene …

Retinal ganglion cells (RGCs) axons are the signal carriers of visual information between
retina and brain. Therefore, they play one of the important roles affected in many optic …

Purpose Mutations in the CYP1B1, MYOC, OPTN, and WDR36 genes result in glaucoma.
Given its expression in the optic nerve, it is likely a mutation in the OPTC gene is also …

Optineurin (OPTN) is an adaptor protein that is involved in mediating a variety of cellular
processes such as signaling, vesicle trafficking, and autophagy. Certain mutations in OPTN …

Mutations in the autophagy receptor OPTN/optineurin are associated with the pathogenesis
of glaucoma and amyotrophic lateral sclerosis, but the underlying molecular basis is poorly …