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Optic atrophy 1

This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] (from NCBI)
Top mentioned proteins: Dynamin I, CAN, HAD, Utrophin, HSG
Papers using OPA1 antibodies
The adsorption characteristics, activity and stability of trypsin onto mesoporous silicates
Fernandes Pedro et al., In Enzyme Research, 2004
... -glucopyranoside (p-NPG), sodium alginate, and Amberlite IRC86 were from Sigma Aldrich (St ...
Caspase activity and a specific cytochrome C are required for sperm differentiation in Drosophila.
Hassan Bassem A., In PLoS ONE, 2002
... opa1 (C-terminally Flag-tagged) and UAS-marf (C-terminally Flag-tagged) transgenic lines, and their expression ...
Papers on OPA1
Loss of OMA1 delays neurodegeneration by preventing stress-induced OPA1 processing in mitochondria.
Langer et al., Köln, Germany. In J Cell Biol, Feb 2016
Proteolytic cleavage of the dynamin-like guanosine triphosphatase OPA1 in mitochondria is emerging as a central regulatory hub that determines mitochondrial morphology under stress and in disease.
NDPK-D (NM23-H4)-mediated externalization of cardiolipin enables elimination of depolarized mitochondria by mitophagy.
Schlattner et al., Pittsburgh, United States. In Cell Death Differ, Feb 2016
In situ proximity ligation assay (PLA) showed that mitophagy-inducing CL-transfer activity of NDPK-D is closely associated with the dynamin-like GTPase OPA1, implicating fission-fusion dynamics in mitophagy regulation.Cell Death and Differentiation advance online publication, 8 January 2016; doi:10.1038/cdd.2015.160.
Phosphatase 2A Inhibition Affects Endoplasmic Reticulum and Mitochondria Homeostasis Via Cytoskeletal Alterations in Brain Endothelial Cells.
Moreira et al., Coimbra, Portugal. In Mol Neurobiol, Feb 2016
The inhibition of PP2A activity also promoted an alteration of the structural and spatial mitochondria network due to upregulation of mitochondrial fission (Drp1 and Fis1) and fusion (Mfn1, Mfn2 and OPA1) proteins, suggesting detrimental changes in mitochondrial dynamics.
Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice.
Langer et al., Köln, Germany. In Science, Jan 2016
Here, we found that adult myocardial function depends on balanced mitochondrial fusion and fission, maintained by processing of the dynamin-like guanosine triphosphatase OPA1 by the mitochondrial peptidases YME1L and OMA1.
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Zhang et al., In Invest Ophthalmol Vis Sci, Jan 2016
Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR.
Modeling autosomal dominant optic atrophy using induced pluripotent stem cells and identifying potential therapeutic targets.
Huang et al., Cincinnati, United States. In Stem Cell Res Ther, Dec 2015
METHODS: In this study, iPSCs were obtained from patients carrying an OPA1 mutation (OPA1 (+/-) -iPSC) that were diagnosed with optic atrophy.
Regulation of mitochondrial inner membrane fusion: divergent evolution with similar solutions?
Wagener, München, Germany. In Curr Genet, Dec 2015
One essential player of mitochondrial fusion is the conserved inner membrane dynamin-like GTPase Mgm1/OPA1.
Physiological roles of mitochondrial fission in cultured cells and mouse development.
Ishihara et al., Kurume, Japan. In Ann N Y Acad Sci, Sep 2015
These changes in mitochondrial morphology occur by repeated membrane fusion and fission events, which are regulated by three types of GTPase proteins: OPA1, Mfn1/2, Drp1 in mammalian cells.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Dallman et al., Miami, United States. In Nat Genet, Aug 2015
In yeast, homologs of OPA1 (Mgm1) and MFN2 (Fzo1) work in concert with Ugo1, for which no human equivalent has been identified thus far.
Auditory nerve disease and auditory neuropathy spectrum disorders.
Kaga, Tokyo, Japan. In Auris Nasus Larynx, Aug 2015
A variety of processes and etiologies are thought to be involved in its pathophysiology including mutations of the OTOF and/or OPA1 genes.
The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damage.
Scorrano et al., Padova, Italy. In Cell Metab, Jul 2015
Here we investigate the role of the optic atrophy 1 (OPA1)-dependent cristae remodeling pathway in vivo and provide evidence that it regulates the response of multiple tissues to apoptotic, necrotic, and atrophic stimuli.
Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.
Claret et al., Barcelona, Spain. In Front Aging Neurosci, 2014
Mutations in two mitochondrial fusion genes (MFN2 and OPA1) cause neurodegenerative diseases, namely Charcot-Marie Tooth type 2A and autosomal dominant optic atrophy (ADOA).
Mitochondrial Dynamics and Heart Failure.
Liu et al., Sacramento, United States. In Compr Physiol, 2014
However, other functions involve other areas of the mitochondria, such as OPA1's role in maintaining cristae structure and preventing cytochrome c leak, and its essential (at least a 10 kDa fragment of OPA1) role in mtDNA replication.
Membrane trafficking. Nucleoside diphosphate kinases fuel dynamin superfamily proteins with GTP for membrane remodeling.
Chavrier et al., Paris, France. In Science, 2014
NM23-H4, a mitochondria-specific NDPK, colocalized with mitochondrial dynamin-like OPA1 involved in mitochondria inner membrane fusion and increased GTP-loading on OPA1.
Real-time imaging of plasma membrane deformations reveals pre-fusion membrane curvature changes and a role for dynamin in the regulation of fusion pore expansion.
Holz et al., Detroit, United States. In J Neurochem, 2012
we discuss how expansion of the fusion pore may be regulated by the GTPase activity of dynamin--{REVIEW}
Down-regulation of OPA1 alters mouse mitochondrial morphology, PTP function, and cardiac adaptation to pressure overload.
Joubert et al., Châtenay-Malabry, France. In Cardiovasc Res, 2012
OPA1 plays an important role in mitochondrial morphology and mitochondrial permeability transition pore functioning.
Dynamic changes of mitochondrial fusion and fission proteins after transient cerebral ischemia in mice.
Abe et al., Okayama, Japan. In J Neurosci Res, 2012
This study showed that mitochondrial fission protein dynamin-related protein 1 (Drp1) and fusion protein optic atrophy 1 (Opa1) were both upregulated in the ischemic penumbra.
Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function.
Reynier et al., Angers, France. In Int J Biochem Cell Biol, 2012
In fibroblasts from affected patients, mutations in the OPA1 and MFN2 genes were found to affect the volume and cellular distribution of mitochondria
Mitochondrial dynamics, biogenesis, and function are coordinated with the cell cycle by APC/C CDH1.
Moncada et al., London, United Kingdom. In Cell Metab, 2012
Changes in mitochondrial morphology and mass are due to accumulation of OPA1, MFN1, and TFAM, silencing any of which hinders cell proliferation.
A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy.
Guan et al., Wenzhou, China. In Biochem Biophys Res Commun, 2012
The c.C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with autosomal dominant optic atrophy.
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