title: Cellular Functions of Optineurin in Health and Disease.
abstract: Optineurin (OPTN) was initially identified as a regulator of NF-κB and interferon signaling, but attracted most attention because of its association with various human disorders such as glaucoma, Paget disease of bone, and amyotrophic lateral sclerosis. Importantly, OPTN has recently been identified as an autophagy receptor important for the autophagic removal of pathogens, damaged mitochondria, and protein aggregates. This activity is most likely compromised in patients carrying OPTN mutations, and contributes to the observed phenotypes. In this review we summarize recent studies describing the molecular mechanisms by which OPTN controls immunity and autophagy, and discuss these findings in the context of several diseases that have been associated with OPTN (mal)function.
authors.affiliation: Inflammation Research Center, Unit of Cellular and Molecular (Patho)Physiology, Vlaams Instituut voor Biotechnologie (VIB), 9052 Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, 9052 Ghent, Belgium.
authors.forename: Karolina
authors.initials: K
authors.lastname: Slowicka
authors.affiliation: Inflammation Research Center, Unit of Cellular and Molecular (Patho)Physiology, Vlaams Instituut voor Biotechnologie (VIB), 9052 Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, 9052 Ghent, Belgium.
authors.forename: Lars
authors.initials: L
authors.lastname: Vereecke
authors.affiliation: Inflammation Research Center, Unit of Cellular and Molecular (Patho)Physiology, Vlaams Instituut voor Biotechnologie (VIB), 9052 Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, 9052 Ghent, Belgium. Electronic address: geert.vanloo@irc.vib-ugent.be.
authors.forename: Geert
authors.initials: G
authors.lastname: van Loo
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000276:immunology*; D000818:Animals; D001343:Autophagy / Q000235:genetics*; D018797:Cell Cycle Proteins; D005901:Glaucoma / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007109:Immunity / Q000235:genetics; D007372:Interferons / Q000378:metabolism; D026901:Membrane Transport Proteins; D009154:Mutation / Q000235:genetics; D016328:NF-kappa B / Q000378:metabolism; D010001:Osteitis Deformans / Q000235:genetics / Q000276:immunology*; D015398:Signal Transduction; D035582:Transcription Factor TFIIIA / Q000235:genetics / Q000378:metabolism*
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; D016328:NF-kappa B; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA; D007372:Interferons