Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice

• Published in: Human molecular genetics Vol. 19; no. 13; pp. 2606 - 2615
• Main Authors: Chi, Zai-Long, Akahori, Masakazu, Obazawa, Minoru, Minami, Masayoshi, Noda, Toru, Nakaya, Naoki, Tomarev, Stanislav, Kawase, Kazuhide, Yamamoto, Tetsuya, Noda, Setsuko, Sasaoka, Masaki, Shimazaki, Atsushi, Takada, Yuichiro, Iwata, Takeshi
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.07.2010
• Subjects: Amino Acid Substitution; Animals; Apoptosis; Biological and medical sciences; Eye Proteins - genetics; Eye Proteins - metabolism; Fundamental and applied biological sciences. Psychology; Genetics of eukaryotes. Biological and molecular evolution; Glaucoma - genetics; Medical sciences; Mice; Mice, Inbred Strains; Mice, Transgenic; Molecular and cellular biology; Mutant Proteins - genetics; Mutant Proteins - metabolism; Ophthalmology; Optic Nerve - pathology; Protein Binding; rab GTP-Binding Proteins - metabolism; Retinal Degeneration - genetics; Retinal Ganglion Cells - pathology; Retinopathies; Macular degeneration; Progressive; Eye disease; Vertebrata; Mammalia; Retinopathy; Mouse; Rodentia; Gene overexpression; Genetics

Glaucoma is one of the leading causes of bilateral blindness affecting nearly 8 million people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells (RGCs) and is often associated with elevated intraocular pressure (IOP). However, patients with normal tension glaucoma...