Genomes and Genes
Gene Symbol: OPA3
Description: OPA3, outer mitochondrial membrane lipid metabolism regulator
Alias: MGA3, optic atrophy 3 protein, Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'), optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
- Bacillus methanolicus pyruvate carboxylase and homoserine dehydrogenase I and II and their roles for L-lysine production from methanol at 50 degrees CTrygve Brautaset
Department of Biotechnology, SINTEF Materials and Chemistry, 7465, Trondheim, Norway
Appl Microbiol Biotechnol 87:951-64. 2010..and hom-2 genes encoding two active homoserine dehydrogenase (HD) proteins, in methylotrophic Bacillus methanolicus MGA3. In general, both PC and HD are regarded as key targets for improving bacterial L-lysine production; PC plays a ..
- Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentationSeung Wook Ryu
Cell Signaling and Bioimaging Laboratory, Department of Bio and Brain Engineering, KAIST, Yuseong Gu, Daejeon 305 701, Korea
Cell Mol Life Sci 67:2839-50. 2010The optic atrophy 3 (OPA3) gene, which has no known homolog or biological function, is mutated in patients with hereditary optic neuropathies...
- Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in JapanNoriyuki Horiuchi
Department of Basic Veterinary Medicine, Obihiro University of Agriculture and Veterinary Medicine, Obihiro 080 8555, Japan
J Vet Med Sci 77:1281-3. 2015..Recently, a nonsense mutation c.343C>T in the bovine optic atrophy 3 (OPA3) gene had been reported to cause the DCM in Holstein cattle in Switzerland...
- OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondriaMarjan Huizing
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 100:149-54. 20103-Methylglutaconic aciduria type III (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction, and increased urinary ..
- Characterization of two transketolases encoded on the chromosome and the plasmid pBM19 of the facultative ribulose monophosphate cycle methylotroph Bacillus methanolicusBenno Markert
Genetics of Prokaryotes, Faculty of Biology and CeBiTec, Bielefeld University, Universitatsstr, 25, 33615 Bielefeld, Germany
BMC Microbiol 14:7. 2014..Bacillus methanolicus is a facultative RuMP pathway methylotroph. B. methanolicus MGA3 harbors two genes putatively coding for TKTs; one located on the chromosome (tkt(C)) and one located on the natural ..
- Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduriaChristina Lam
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab Rep 1:114-123. 2014b>OPA3-related 3-methylglutaconic aciduria, or Costeff Optic Atrophy syndrome, is a neuro-ophthalmologic syndrome of early-onset bilateral optic atrophy and later-onset spasticity, and extrapyramidal dysfunction...
- Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH DefectSaskia B Wortmann
Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders NCMD, Amalia Children s Hospital, Radboud University Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands
JIMD Rep 16:1-6. 2014..denoted "Secondary 3-methylglutaconic acidurias" (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome, OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect, "not otherwise specified (NOS) 3-MGA-..
- Mutant ubiquitin UBB+1 induces mitochondrial fusion by destabilizing mitochondrial fission-specific proteins and confers resistance to oxidative stress-induced cell death in astrocytic cellsNambin Yim
Cell Signaling and Bioimaging Laboratory, Department of Bio and Brain Engineering, KAIST, Daejeon, Korea
PLoS ONE 9:e99937. 2014..that overexpression of UBB+1 destabilized mitochondrial fission-specific proteins including Drp1, Fis1, and OPA3, but not the mitochondrial fusion-specific proteins Mfn1, Mfn2, and OPA1...
- Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathyPanagiotis I Sergouniotis
Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
Neurogenetics 16:69-75. 2015..The latter has been associated with mutations in the OPA1 and OPA3 genes. To date, only six families with OPA3-associated dominant optic atrophy have been reported...
- Costeff syndrome: clinical features and natural historyGilad Yahalom
Parkinson Disease and Movement Disorders Clinic, Chaim Sheba Medical Center, Tel Hashomer, Ramat Gan, 52621, Israel
J Neurol 261:2275-82. 2014..levels of methylglutaconic and methylglutaric acid, and by identification of the disease-causing mutation in the OPA3 gene in most. All patients were examined by a neurologist and signs and symptoms were rated...
- Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophyJieqiong Chen
Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Beijing, China
Invest Ophthalmol Vis Sci 55:6987-95. 2014..The objective of this study was to define the fractional prevalence of LHON and DOA in a cohort of Chinese patients with suspected hereditary optic neuropathy...
- Methylotrophy in the thermophilic Bacillus methanolicus, basic insights and application for commodity production from methanolJonas E N Müller
Institute of Microbiology, ETH Zurich, Zurich, Switzerland
Appl Microbiol Biotechnol 99:535-51. 2015..Recent genome sequencing of two physiologically different wild-type B. methanolicus strains, MGA3 and PB1, accompanied with transcriptome and proteome analyses has generated fundamental new insight into the ..
- Transcriptome analysis of thermophilic methylotrophic Bacillus methanolicus MGA3 using RNA-sequencing provides detailed insights into its previously uncharted transcriptional landscapeMarta Irla
Genetics of Prokaryotes, Faculty of Biology and Center for Biotechnology, Bielefeld University, Universitatsstr 25, 33615, Bielefeld, Germany
BMC Genomics 16:73. 2015Bacillus methanolicus MGA3 is a thermophilic, facultative ribulose monophosphate (RuMP) cycle methylotroph...
- Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi JewsY Anikster
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Am J Hum Genet 69:1218-24. 2001..2-q13.3, by linkage analysis. To isolate the causative gene, OPA3, we sequenced four genes within the critical interval and identified, in the intronic sequence of a gene ..
- New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataractsSarah Kunze
Institutes of Developmental Genetics, Helmholtz Zentrum Munchen, Neuherberg, Germany
PLoS ONE 10:e0125304. 2015..The critical interval (8.6 Mb) contains 3 candidate genes (Apoe, Six5, Opa3); none of them showed a mutation. Using exome sequencing, we identified a c...
- Growth of Bacillus methanolicus in 2 M methanol at 50 °C: the effect of high methanol concentration on gene regulation of enzymes involved in formaldehyde detoxification by the ribulose monophosphate pathwayAhmet Bozdağ
Department of Plant and Microbial Biology, North Carolina State University, Raleigh, NC, USA
J Ind Microbiol Biotechnol 42:1027-38. 2015Bacillus methanolicus MGA3 is a Gram-positive aerobic methylotroph growing optimally at 50-53°C. Methylotrophy in B...
- Behr syndrome with homozygous C19ORF12 mutationIlka Kleffner
Department of Neurology, University of Muenster, Germany Electronic address
J Neurol Sci 357:115-8. 2015..Some reported cases have been found to carry mutations in the OPA1, OPA3 or C12ORF65 genes which are known causes of pure optic atrophy or optic atrophy complicated by movement disorder.
- Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleepNirit Carmi
Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel
Eur J Paediatr Neurol 19:733-6. 2015Costeff syndrome or OPA3-related 3-methylglutaconic aciduria is an autosomal recessive neurodegenerative disorder characterized by early onset optic atrophy and choreoathetosis with later onset of ataxia and spasticity...
- Core pathways operating during methylotrophy of Bacillus methanolicus MGA3 and induction of a bacillithiol-dependent detoxification pathway upon formaldehyde stressJonas E N Müller
Institute of Microbiology, ETH Zurich, Vladimir Prelog Weg 4, Zurich, 8093, Switzerland
Mol Microbiol 98:1089-100. 2015Bacillus methanolicus MGA3 is a model facultative methylotroph of interest for fundamental research and biotechnological applications...
- Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigreeX Jin
National Center for Birth Defect Monitoring, West China Second University Hospital, Sichuan University, Chengdu, China
Genet Mol Res 14:10961-72. 2015..It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutations in OPA1 constitute the most prevalent cause of ADOA...
- Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrityAlice E Navein
School of Biosciences, Cardiff University, Cardiff CF10 3AX, UK
Hum Mol Genet 25:2404-2416. 2016..We have, therefore, characterized the skeletal phenotype in the Opa3L122P mouse model for Costeff syndrome, in which a missense mutation of the mitochondrial membrane ..
- Quantitative metabolomics of the thermophilic methylotroph Bacillus methanolicusMarc Carnicer
Universite de Toulouse INSA, UPS, INP LISBP, 135 Avenue de Rangueil, 31077, Toulouse, France
Microb Cell Fact 15:92. 2016The gram-positive bacterium Bacillus methanolicus MGA3 is a promising candidate for methanol-based biotechnologies...
- Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutationStephanie C Bourne
Department of Microbiology and Immunology, Dalhousie University, Halifax, Nova Scotia B3H 4R2, Canada
Cold Spring Harb Mol Case Stud 3:a001156. 2017..Exome sequencing identified a c.235C > G p.(Leu79Val) variant in the optic atrophy 3 (OPA3) gene that was confirmed to be de novo...
- Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic NeuropathyYadi Li
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
PLoS ONE 12:e0170090. 2017..The present study was designed to survey the mutation spectrum of common pathogenic genes (OPA1, OPA3 and mtDNA genes) and to analyze the genotype-phenotype characteristics of Chinese patients with suspected childhood-..
- Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase geneA Nystuen
Department of Pediatrics, University of Iowa, Iowa City 52242, USA
Hum Mol Genet 6:563-9. 1997..Linkage disequilibrium was seen in six polymorphic markers across a 1 Mb interval. This region is well characterized and contains several candidate genes...
- 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findingsRobert Kleta
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Drive, MSC 1830, Building 10, Room 9S 241, Bethesda, MD 20892 1830, USA
Mol Genet Metab 76:201-6. 2002..The presence of the disorder in an Iraqi-Jewish genetic isolate led to mapping of the OPA3 gene to chromosome 19q13.2-q13.3, followed by isolation of the gene itself...
- Food assimilated by two sympatric populations of the brown planthopper Nilaparvata lugens (Delphacidae) feeding on different host plants contaminates insect DNA detected by RAPD-PCR analysisM A Latif
Department of Crop Science, Faculty of Agriculture, Universiti Putra Malaysia, Selangor, Malaysia
Genet Mol Res 11:30-41. 2012..The bands, OPA3 (1.25), OPD3 (1.10), OPD3 (0.80), OPD3 (0.60), pUC/M13F (0.35), pUC/M13F (0.20), BOXAIR (0.50), peh#3 (0...
- Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduriaFrederic Tort
Secció d Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, IDIBAPS, 08028, Barcelona, Spain
Mol Genet Metab 110:73-7. 2013..Causative mutations in TAZ, OPA3, DNAJC19, ATP12, ATP5E, and TMEM70 have been identified...
- Genome sequence of thermotolerant Bacillus methanolicus: features and regulation related to methylotrophy and production of L-lysine and L-glutamate from methanolTonje M B Heggeset
SINTEF Materials and Chemistry, Department of Biotechnology, SINTEF, Trondheim, Norway
Appl Environ Microbiol 78:5170-81. 2012..We present here the genome sequences of the important B. methanolicus model strain MGA3 (ATCC 53907) and the alternative wild-type strain PB1 (NCIMB13113)...
- Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndromeTimothy Wells
School of Biosciences, Cardiff University, Museum Avenue, Cardiff, UK
Hum Mol Genet 21:4836-44. 2012..phenotype of a mouse model for Costeff syndrome, in which a point mutation in the mitochondrial membrane protein Opa3 impairs mitochondrial activity...
- Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann
Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands
J Inherit Metab Dis 36:923-8. 2013..defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect)...
- 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patientsSaskia B Wortmann
Nijmegen Center for Mitochondrial Disorders NCMD at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease IGMD, Radboud University Medical Centre, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
J Inherit Metab Dis 36:913-21. 2013..Besides, it was a consistent feature of patients with mutations in TAZ, SERAC1, OPA3, DNAJC19 and TMEM70 accounting for mitochondrial membrane related pathology...
- Methylotrophic Bacillus methanolicus encodes two chromosomal and one plasmid born NAD+ dependent methanol dehydrogenase paralogs with different catalytic and biochemical propertiesAnne Krog
SINTEF Materials and Chemistry, Department of Biotechnology, Trondheim, Norway
PLoS ONE 8:e59188. 2013..Recently, the genomes of the B. methanolicus strains MGA3 (ATCC53907) and PB1 (NCIMB13113) were sequenced and found to harbor three different putative Mdh encoding genes, ..
- Downregulation of OPA3 is responsible for transforming growth factor-β-induced mitochondrial elongation and F-actin rearrangement in retinal pigment epithelial ARPE-19 cellsSeung Wook Ryu
Department of Bio and Brain Engineering, KAIST, Daejeon, Korea
PLoS ONE 8:e63495. 2013..Moreover, OPA3, which plays a crucial role in mitochondrial dynamics, was downregulated following TGF-β treatment...
- A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotypingBeenish Arif
Institute of Neurogenetics, University of Lubeck, Lubeck, Germany
JAMA Neurol 70:783-7. 2013..We sought to unravel the genetic cause in a consanguineous Pakistani family with a complex neurological phenotype...
- The methylotrophic Bacillus methanolicus MGA3 possesses two distinct fructose 1,6-bisphosphate aldolasesJessica Stolzenberger
Faculty of Biology and CeBiTec, Bielefeld University, Bielefeld, Germany
Microbiology 159:1770-81. 2013..methanolicus. Based on the kinetic data, we propose that FBA(C) acts as major aldolase in glycolysis, whereas FBA(P) acts as major aldolase in gluconeogenesis in B. methanolicus. ..
- First cases of dominant optic atrophy in Saudi Arabia: report of two novel OPA1 mutationsAlberto Galvez-Ruiz
Neuro Ophthalmology Division AG R, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia Center for Human Genetics CN, CB, HB, Bioscientia, Ingelheim Germany Center for Clinical Research CB, University Hospital of Freiburg, Freiburg, Germany and Institute of Human Genetics HB, University Hospital of Cologne, Cologne, Germany
J Neuroophthalmol 33:349-53. 2013..To date, more than 200 OPA1 mutations in the OPA1 gene have been described. However, DOA is genetically heterogeneous with certain families linked to other chromosomal loci, that is, OPA3, OPA4, OPA5, and OPA7.
- Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylationS Wortmann
Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, The Netherlands
Mol Genet Metab 88:47-52. 2006..acid analysis, NMR spectroscopy, measurement of 3-methylglutaconyl-CoA hydratase activity, cardiolipin levels, OPA3 gene analysis and measurement of the oxidative phosphorylation in four female patients with 3-methylglutaconic ..
- OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduriaK Neas
Western Sydney Genetics Program, The Children s Hospital at Westmead, Sydney, NSW, Australia
J Inherit Metab Dis 28:525-32. 2005..screened 13 patients with neurological abnormalities and 3-methylglutaconic aciduria (3MGA) for mutations in the OPA3 gene, which are known to be the cause of Costeff syndrome (optic atrophy, chorea and spasticity; type III 3MGA)...
- Role of the Bacillus methanolicus citrate synthase II gene, citY, in regulating the secretion of glutamate in L-lysine-secreting mutantsTrygve Brautaset
Department of Biotechnology, Norwegian University of Science and Technology, N 7491 Trondheim, Norway
Appl Environ Microbiol 69:3986-95. 2003The thermotolerant, restrictive methylotroph Bacillus methanolicus MGA3 (ATCC 53907) can secrete 55 g of glutamate per liter (maximum yield, 0...
- Dissimilation of [(13)C]methanol by continuous cultures of Bacillus methanolicus MGA3 at 50 degrees C studied by (13)C NMR and isotope-ratio mass spectrometryStefanie B Pluschkell
BioTechnology Institute and Department of Chemical Engineering and Materials Science, University of Minnesota, Saint Paul 55108, USA
Microbiology 148:3223-33. 2002Using a continuous culture of Bacillus methanolicus MGA3 limited by 100 mM methanol in the feed and growing at a dilution rate D=0...
- Genome-wide association study of comorbid depressive syndrome and alcohol dependenceAlexis C Edwards
Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia 23298 0126, USA
Psychiatr Genet 22:31-41. 2012....
- Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome geneSalah Mohamed Cherif Titah
CHRU Montpellier, Centre de Référence Genetic Sensory Diseases, Montpellier, France
Eur J Ophthalmol 22:254-8. 2012..The presence of a cataract has been variably mentioned in WS...
- Expression of recombinant green fluorescent protein in Bacillus methanolicusDewi Nilasari
Chemical and Materials Engineering, San Jose State University, San Jose, CA 95192, USA
Biotechnol Prog 28:662-8. 2012..A plasmid was constructed that incorporates the methanol dehydrogenase (mdh) promoter of B. methanolicus MGA3 together with the GFPuv gene...
- A methylester of the glucuronide prodrug DOX-GA3 for improvement of tumor-selective chemotherapyMichelle de Graaf
Department of Medical Oncology, VU University Medical Center, P O Box 7057, 1007 MB Amsterdam, The Netherlands
Biochem Pharmacol 68:2273-81. 2004..We hypothesized that slow release of DOX-GA3 from its methylester, DOX-mGA3, by esterase activity in blood would result in improved circulation half-life (t(1/2)) of DOX-GA3...
- Functional characterization of key enzymes involved in L-glutamate synthesis and degradation in the thermotolerant and methylotrophic bacterium Bacillus methanolicusAnne Krog
SINTEF Materials and Chemistry, Biotechnology and Nanomedicine Sector, Department of Molecular Biology, SINTEF, Trondheim, Norway
Appl Environ Microbiol 79:5321-8. 2013Bacillus methanolicus wild-type strain MGA3 secretes 59 g/liter(-1) of l-glutamate in fed-batch methanol cultivations at 50°C...
- A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial networkTanja Grau
Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Tuebingen, Germany
J Med Genet 50:848-58. 2013Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome...
- Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud Chevrollier
Institut National de la Sante et de la Recherche Medicale, U694, Départment de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France
Ann Neurol 63:794-8. 2008..dominant optic atrophy (mutations of OPA1), autosomal dominant optic atrophy associated with cataract (mutations of OPA3), and Leber's hereditary optic neuropathy, a disorder associated with point mutations of mitochondrial DNA complex ..
- Costeff optic atrophy syndrome: new clinical case and novel molecular findingsG Ho
Genetic Metabolic Disorders Research Unit, Children s Hospital at Westmead, Sydney, Australia
J Inherit Metab Dis 31:S419-23. 2008..It is caused by homozygous mutations in the optic atrophy 3 gene (OPA3)...
- Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutationChunmei Li
Department of Ophthalmology and Visual Sciences, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Am J Med Genet A 138:208-11. 2005..Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, OPA1...
- [An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs]C Verny
Departement de Neurologie, Centre Hospitalier Universitaire, Paris
Rev Neurol (Paris) 161:451-4. 2005..The authors believed this condition to be distinct from other diseases known at that time, e.g. the Behr syndrome, Marinesco-Sjogren syndrome and Friedreich's ataxia...
- Molecular genetic basis of primary inherited optic neuropathiesM Votruba
School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK
Eye (Lond) 18:1126-32. 2004..To review the molecular genetic basis of primary inherited optic neuropathies...
- OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataractP Reynier
J Med Genet 41:e110. 2004
- Expression of MRP14 gene is frequently down-regulated in Chinese human esophageal cancerJie Wang
National Laboratory of Molecular Oncology, Cancer Institute Hospital, Chinese Academy of Medical Sciences, Peking University of Medical School, Beijing 100021, China
Cell Res 14:46-53. 2004..DD-PCR with the arbitrary primer OPA3 showed that one cDNA band was highly expressed in normal tissues, but disappeared or substantially decreased in ..
- Plasmid-dependent methylotrophy in thermotolerant Bacillus methanolicusTrygve Brautaset
Department of Biotechnology, Norwegian University of Science and Technology, N 7491 Trondheim SINTEF Applied Chemistry, SINTEF, N 7043 Trondheim, Norway
J Bacteriol 186:1229-38. 2004..methanolicus MGA3. Sequence analysis of pBM19 demonstrated the presence of the methanol dehydrogenase gene, mdh, which is crucial for ..
- Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc Ferre
INSERM, U694, Angers, F 49000, France
Hum Mutat 30:E692-705. 2009..for the ten primary LHON-causing mtDNA mutations and examining the entire coding sequences of the OPA1 and OPA3 genes, the two genes currently identified in ADOA...
- Retinal ganglion cell neurodegeneration in mitochondrial inherited disordersValerio Carelli
Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, 40123, Bologna, Italy
Biochim Biophys Acta 1787:518-28. 2009..sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3)...
- Overexpression of wild-type aspartokinase increases L-lysine production in the thermotolerant methylotrophic bacterium Bacillus methanolicusOyvind M Jakobsen
Department of Biotechnology, SINTEF Materials and Chemistry, Trondheim, Norway
Appl Environ Microbiol 75:652-61. 2009..synthase; dapG, encoding AKI; and yclM, encoding AKIII) of the aspartate pathway in Bacillus methanolicus MGA3. Together with the known AKII gene lysC, dapG and yclM form a set of three AK genes in this organism...
- Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 geneH Eiberg
Department of Medical Biochemistry and Genetics, Panum Institute, University of Copenhagen, DK 2200 Copenhagen N, Denmark
J Med Genet 43:435-40. 2006..Additional loci are OPA3, OPA4, and OPA5, located at 19q13.2, 18q12.2, and 22q12.1-q13.1, respectively. Mutations in the WFS1 gene, at 4p16...
- [Costeff syndrome: a syndrome that was described in Israel and the responsible gene discovered by an Israeli doctor]Noam Fink
Department of Medicine E, Sheba Medical Center, Tel Hashomer, and Sackler Faculty of Medicine, Tel Aviv University
Harefuah 145:402-3, 472. 2006..Recently, the gene responsible for this disorder, OPA3 gene was identified. This gene was also discovered by an Israeli doctor...
- Mitochondrial abnormalities in patients with LHON-like optic neuropathiesKhaled K Abu-Amero
Mitochondrial Research Laboratory, Department of Genetics, Riyadh, Kingdom of Saudi Arabia
Invest Ophthalmol Vis Sci 47:4211-20. 2006..To investigate certain biochemical and molecular characteristics of mitochondria in patients with Leber hereditary optic neuropathy (LHON)-like optic neuropathies...
- Mitochondrial changes in leukocytes of patients with optic neuritisThomas M Bosley
Neuroscience Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Mol Vis 13:1516-28. 2007..We evaluated patients with optic neuritis for evidence of systemic mitochondrial abnormalities...
- Nuclear and mitochondrial analysis of patients with primary angle-closure glaucomaKhaled K Abu-Amero
Mitochondrial Research Laboratory, Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Invest Ophthalmol Vis Sci 48:5591-6. 2007..In this study, patients with primary angle-closure glaucoma (PACG) were examined for mutations in nuclear genes reported to be associated with glaucoma and for possible mitochondrial abnormalities...
- A missense mutation in the murine Opa3 gene models human Costeff syndromeVanessa J Davies
School of Optometry and Vision Sciences, Cardiff University, Maindy Road, Cathays, Cardiff CF24 4LU, UK
Brain 131:368-80. 2008b>Opa3 mRNA is expressed in all tissues examined to date, but currently the function of the OPA3 protein is unknown...
- Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucomaKhaled K Abu-Amero
Mitochondrial Research Laboratory, Genetics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Mol Vis 14:29-36. 2008..Pseudoexfoliation glaucoma (PEG) is the most prevalent secondary open angle glaucoma occurring worldwide. The search for a genetic cause in PEG has been largely unsuccessful despite evidence of hereditary transmission...
- Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalitiesThomas M Bosley
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia
Invest Ophthalmol Vis Sci 49:5250-6. 2008..To evaluate a group of patients with isolated, early-onset, bilateral optic neuropathy for genetic and biochemical evidence of mitochondrial diseases...
- A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3Wuhong Pei
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
Development 137:2587-96. 2010Costeff Syndrome, which is caused by mutations in the OPTIC ATROPHY 3 (OPA3) gene, is an early-onset syndrome characterized by urinary excretion of 3-methylglutaconic acid (MGC), optic atrophy and movement disorders, including ataxia and ..
- A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattleMarta Owczarek-Lipska
Institute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, CH 3001 Berne, Switzerland
Genomics 97:51-7. 2011..In the present study we describe the successful identification of the causative mutation in the OPA3 gene located on BTA18 that was previously reported to cause 3-methylglutaconic aciduria type III in Iraqi-Jewish ..
- Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesPatrick Yu-Wai-Man
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA
Ophthalmology 118:558-63. 2011..the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease...
- A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16Valerio Carelli
Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, 40123 Bologna, Italy
Hum Mol Genet 20:1893-905. 2011..optic atrophy (DOA) is genetically heterogeneous and pathogenic mutations have been identified in the OPA1 and OPA3 genes, both encoding for mitochondrial proteins...
- Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type IIIKate A Powell
School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales, UK
Invest Ophthalmol Vis Sci 52:4369-80. 2011To investigate the developmental and ocular expression of Opa3 in a mouse model of 3-methylglutaconicaciduria type III and the effect of mutation on protein localization and mitochondrial morphology.