OPA3

Summary

Gene Symbol: OPA3
Description: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Alias: MGA3, Optic atrophy 3 (Iraqi-Jewish 'optic atrophy plus'), optic atrophy 3 protein
Species: human

Top Publications

  1. doi Bacillus methanolicus pyruvate carboxylase and homoserine dehydrogenase I and II and their roles for L-lysine production from methanol at 50 degrees C
    Trygve Brautaset
    Department of Biotechnology, SINTEF Materials and Chemistry, 7465, Trondheim, Norway
    Appl Microbiol Biotechnol 87:951-64. 2010
  2. doi Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation
    Seung 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. 2010
  3. pmc 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 Jews
    Y 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
  4. ncbi 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings
    Robert 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
  5. pmc OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 100:149-54. 2010
  6. ncbi 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 gene
    A Nystuen
    Department of Pediatrics, University of Iowa, Iowa City 52242, USA
    Hum Mol Genet 6:563-9. 1997
  7. pmc Methylotrophic Bacillus methanolicus encodes two chromosomal and one plasmid born NAD+ dependent methanol dehydrogenase paralogs with different catalytic and biochemical properties
    Anne Krog
    SINTEF Materials and Chemistry, Department of Biotechnology, Trondheim, Norway
    PLoS ONE 8:e59188. 2013
  8. doi 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
    Saskia 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
  9. doi Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
    Saskia 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
  10. doi Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome
    Timothy Wells
    School of Biosciences, Cardiff University, Museum Avenue, Cardiff, UK
    Hum Mol Genet 21:4836-44. 2012

Scientific Experts

  • Seung Wook Ryu
  • Valerio Carelli
  • Timothy Wells
  • Alexis Edwards
  • M A Latif
  • Trygve Brautaset
  • Marc Ferre
  • Oyvind M Jakobsen
  • Arnaud Chevrollier
  • M Votruba
  • S B Wortmann
  • Khaled K Abu-Amero
  • Michael Harris-Love
  • H Eiberg
  • C Verny
  • Anne Krog
  • Thomas M Bosley
  • Tonje M B Heggeset
  • Kate A Powell
  • Marjan Huizing
  • Wuhong Pei
  • Yair Anikster
  • Beenish Arif
  • Alberto Galvez-Ruiz
  • Tanja Grau
  • Jessica Stolzenberger
  • Frederic Tort
  • Trond E Ellingsen
  • Robert Kleta
  • Dewi Nilasari
  • Salah Mohamed Cherif Titah
  • Marta Owczarek-Lipska
  • Patrick Yu-Wai-Man
  • Heidi Dorward
  • Benjamin Feldman
  • Michael A Wride
  • Jennifer R Davies
  • G Ho
  • Vanessa J Davies
  • J Christodoulou
  • Noam Fink
  • William A Gahl
  • Flemming Skovby
  • K Neas
  • Chunmei Li
  • Jie Wang
  • P Reynier
  • Michelle de Graaf
  • Stefanie B Pluschkell
  • Maria Josep Coll
  • Philip Seibler
  • Judith García-Villoria
  • Christiane E Kupper
  • Steffen N Lindner
  • Joaquin Dopazo
  • Doron Rapaport
  • Aleix Navarro-Sastre
  • Holger Thiele
  • Olha Schneider
  • Simone Schimpf-Linzenbold
  • Cécile Delettre
  • Paz Briones
  • Tonje Marita Bjerkan Heggeset
  • Gudrun Nurnberg
  • Anne Brüggemann
  • Trond Erling Ellingsen
  • Susen Winkler
  • Franca Vulinović
  • Hanno Bolz
  • Carsten Bergmann
  • Tony Roscioli
  • Christine Neuhaus
  • María Teresa García-Silva
  • Bernd Wissinger
  • Beate Leo-Kottler
  • Jorge Jiménez-Almazán
  • Katja Lohmann
  • Xènia Ferrer-Cortès
  • Amara Fatima
  • Rejko Kruger
  • Peter Nurnberg
  • Volker F Wendisch
  • Jonas E N Müller
  • Christine Klein
  • Lena F Burbulla
  • Orly Elpeleg
  • Konrad Oexle
  • Kishore R Kumar
  • Ahmad Zeeshan Jamil
  • Enrique Vidal

Detail Information

Publications53

  1. doi Bacillus methanolicus pyruvate carboxylase and homoserine dehydrogenase I and II and their roles for L-lysine production from methanol at 50 degrees C
    Trygve 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 ..
  2. doi Optic atrophy 3 as a protein of the mitochondrial outer membrane induces mitochondrial fragmentation
    Seung 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. 2010
    The optic atrophy 3 (OPA3) gene, which has no known homolog or biological function, is mutated in patients with hereditary optic neuropathies...
  3. pmc 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 Jews
    Y 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 ..
  4. ncbi 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings
    Robert 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...
  5. pmc OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria
    Marjan Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 100:149-54. 2010
    3-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 ..
  6. ncbi 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 gene
    A 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...
  7. pmc Methylotrophic Bacillus methanolicus encodes two chromosomal and one plasmid born NAD+ dependent methanol dehydrogenase paralogs with different catalytic and biochemical properties
    Anne 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, ..
  8. doi 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients
    Saskia 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...
  9. doi Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature
    Saskia 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)...
  10. doi Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome
    Timothy 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...
  11. pmc Genome sequence of thermotolerant Bacillus methanolicus: features and regulation related to methylotrophy and production of L-lysine and L-glutamate from methanol
    Tonje 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)...
  12. doi 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 analysis
    M 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...
  13. doi Expression of recombinant green fluorescent protein in Bacillus methanolicus
    Dewi 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...
  14. pmc Genome-wide association study of comorbid depressive syndrome and alcohol dependence
    Alexis C Edwards
    Virginia Institute for Psychiatric and Behavioral Genetics, Virginia Commonwealth University, Richmond, Virginia 23298 0126, USA
    Psychiatr Genet 22:31-41. 2012
    ....
  15. doi Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene
    Salah 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...
  16. ncbi 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 spectrometry
    Stefanie B Pluschkell
    BioTechnology Institute and Department of Chemical Engineering and Materials Science, University of Minnesota, Saint Paul 55108, USA
    Microbiology 148:3223-33. 2002
    Using a continuous culture of Bacillus methanolicus MGA3 limited by 100 mM methanol in the feed and growing at a dilution rate D=0...
  17. pmc Role of the Bacillus methanolicus citrate synthase II gene, citY, in regulating the secretion of glutamate in L-lysine-secreting mutants
    Trygve Brautaset
    Department of Biotechnology, Norwegian University of Science and Technology, N 7491 Trondheim, Norway
    Appl Environ Microbiol 69:3986-95. 2003
    The thermotolerant, restrictive methylotroph Bacillus methanolicus MGA3 (ATCC 53907) can secrete 55 g of glutamate per liter (maximum yield, 0...
  18. doi First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutations
    Alberto 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 33:354-8. 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.
  19. ncbi 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 phosphorylation
    S 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 ..
  20. doi A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping
    Beenish 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...
  21. doi Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria
    Frederic 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...
  22. ncbi OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria
    K 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)...
  23. doi The methylotrophic Bacillus methanolicus MGA3 possesses two distinct fructose 1,6-bisphosphate aldolases
    Jessica 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. ..
  24. pmc Downregulation of OPA3 is responsible for transforming growth factor-β-induced mitochondrial elongation and F-actin rearrangement in retinal pigment epithelial ARPE-19 cells
    Seung 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...
  25. doi A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network
    Tanja Grau
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Tuebingen, Germany
    J Med Genet 50:848-58. 2013
    Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome...
  26. pmc Functional characterization of key enzymes involved in L-glutamate synthesis and degradation in the thermotolerant and methylotrophic bacterium Bacillus methanolicus
    Anne Krog
    SINTEF Materials and Chemistry, Biotechnology and Nanomedicine Sector, Department of Molecular Biology, SINTEF, Trondheim, Norway
    Appl Environ Microbiol 79:5321-8. 2013
    Bacillus methanolicus wild-type strain MGA3 secretes 59 g/liter(-1) of l-glutamate in fed-batch methanol cultivations at 50°C...
  27. ncbi A methylester of the glucuronide prodrug DOX-GA3 for improvement of tumor-selective chemotherapy
    Michelle 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...
  28. doi Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III
    Kate A Powell
    School of Optometry and Vision Sciences, Cardiff University, Cardiff, Wales, UK
    Invest Ophthalmol Vis Sci 52:4369-80. 2011
    To 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.
  29. doi A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16
    Valerio 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...
  30. pmc Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies
    Patrick 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...
  31. doi A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle
    Marta 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 ..
  32. pmc A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3
    Wuhong Pei
    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Development 137:2587-96. 2010
    Costeff 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 ..
  33. pmc Plasmid-dependent methylotrophy in thermotolerant Bacillus methanolicus
    Trygve 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 ..
  34. ncbi Mitochondrial abnormalities in patients with LHON-like optic neuropathies
    Khaled 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...
  35. ncbi [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...
  36. pmc Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene
    H 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...
  37. ncbi Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation
    Chunmei 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...
  38. ncbi [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...
  39. ncbi Molecular genetic basis of primary inherited optic neuropathies
    M 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...
  40. pmc OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
    P Reynier
    J Med Genet 41:e110. 2004
  41. ncbi Expression of MRP14 gene is frequently down-regulated in Chinese human esophageal cancer
    Jie 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 ..
  42. ncbi Mitochondrial changes in leukocytes of patients with optic neuritis
    Thomas 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...
  43. ncbi Nuclear and mitochondrial analysis of patients with primary angle-closure glaucoma
    Khaled 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...
  44. doi A missense mutation in the murine Opa3 gene models human Costeff syndrome
    Vanessa J Davies
    School of Optometry and Vision Sciences, Cardiff University, Maindy Road, Cathays, Cardiff CF24 4LU, UK
    Brain 131:368-80. 2008
    b>Opa3 mRNA is expressed in all tissues examined to date, but currently the function of the OPA3 protein is unknown...
  45. doi Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
    Marc 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...
  46. doi Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders
    Valerio 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)...
  47. pmc Overexpression of wild-type aspartokinase increases L-lysine production in the thermotolerant methylotrophic bacterium Bacillus methanolicus
    Oyvind 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...
  48. doi Costeff optic atrophy syndrome: new clinical case and novel molecular findings
    G 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)...
  49. doi Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities
    Thomas 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...
  50. doi Hereditary optic neuropathies share a common mitochondrial coupling defect
    Arnaud 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 ..
  51. pmc Analysis of nuclear and mitochondrial genes in patients with pseudoexfoliation glaucoma
    Khaled 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...