| 1 | OPA1, SIRT4
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| SIRT4 interacts with OPA1 and regulates mitochondrial quality control and mitophagy.
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| Lang A, Anand R, Altinoluk-Hambüchen S, Ezzahoini H, Stefanski A, Iram A, Bergmann L, Urbach J, Böhler P, Hänsel J, Franke M, Stühler K, Krutmann J, Scheller J, Stork B, Reichert AS, Piekorz RP.
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| Aging (Albany NY) 9(10):2163-2189. doi: 10.18632/aging.101307. Erratum in: Aging (Albany NY). 2018 Sep 28;10(9):2536c.
2017
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| 2 | OMA1, OPA1, YME1L1
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| Reciprocal Degradation of YME1L and OMA1 Adapts Mitochondrial Proteolytic Activity during Stress.
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| Rainbolt TK, Lebeau J, Puchades C, Wiseman RL.
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| Cell Rep 14(9):2041-9. doi: 10.1016/j.celrep.2016.02.011. Epub 2016 Feb 25.
2016
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| 3 | OMA1, OPA1
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| Loss of OMA1 delays neurodegeneration by preventing stress-induced OPA1 processing in mitochondria.
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| Korwitz A, Merkwirth C, Richter-Dennerlein R, Tröder SE, Sprenger HG, Quirós PM, López-Otín C, Rugarli EI, Langer T.
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| J Cell Biol 212(2):157-66. doi: 10.1083/jcb.201507022.
2016
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| 4 | MFN2, OPA1, SLC25A46
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| SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome
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| Janer A, Prudent J, Paupe V, Fahiminiya S, Majewski J, Sgarioto N, Des Rosiers C, Forest A, Lin ZY, Gingras AC, Mitchell G, McBride HM, Shoubridge EA.
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| EMBO Mol Med. Sep 1;8(9):1019-38. doi: 10.15252/emmm.201506159. 2016
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| 5 | OMA1, OPA1
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| Membrane depolarization activates the mitochondrial protease OMA1 by stimulating self-cleavage.
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| Zhang K, Li H, Song Z.
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| EMBO Rep 15(5):576-85. doi: 10.1002/embr.201338240. Epub 2014 Apr 9.
2014
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| 6 | OMA1, OPA1, YME1L1
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| The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission.
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| Anand R, Wai T, Baker MJ, Kladt N, Schauss AC, Rugarli E, Langer T.
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| J Cell Biol 204(6):919-29. doi: 10.1083/jcb.201308006. Epub 2014 Mar 10.
2014
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| 7 | OMA1, OPA1
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| Stress-induced OMA1 activation and autocatalytic turnover regulate OPA1-dependent mitochondrial dynamics.
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| Baker MJ, Lampe PA, Stojanovski D, Korwitz A, Anand R, Tatsuta T, Langer T.
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| EMBO J 33(6):578-93. doi: 10.1002/embj.201386474. Epub 2014 Feb 18.
2014
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| 8 | BEHRS, OPA1
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| Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
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| Yu-Wai-Man P, Chinnery PF.
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| Brain 137(Pt 10):e302. doi: 10.1093/brain/awu187. Epub 2014 Jul 10. No abstract available.
2014
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| 9 | BEHRS, OPA1
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| Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
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| Yu-Wai-Man P, Chinnery PF.
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| Brain 137(Pt 10):e302. doi: 10.1093/brain/awu187. Epub 2014 Jul 10. No abstract available.
2014
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| 10 | OPA1
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| OPA1 loss of function affects in vitro neuronal maturation.
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| Bertholet AM, Millet AM, Guillermin O, Daloyau M, Davezac N, Miquel MC, Belenguer P.
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| Brain. 2013
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| 11 | OPA1
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| Opa1 is required for proper mitochondrial metabolism in early development.
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| Rahn JJ, Stackley KD, Chan SS.
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| PLoS One. 8(3):e59218. 2013
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| 12 | OPA1
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| OPA1 promotes pH flashes that spread between contiguous mitochondria without matrix protein exchange.
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| Santo-Domingo J, Giacomello M, Poburko D, Scorrano L, Demaurex N.
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| EMBO J. 2013
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| 13 | HIGD1A, OPA1
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| Higd-1a interacts with Opa1 and is required for the morphological and functional integrity of mitochondria.
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| An HJ, Cho G, Lee JO, Paik SG, Kim YS, Lee H.
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| Proc Natl Acad Sci U S A. 110(32):13014-9. 2013
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| 14 | OPA1
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| Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity.
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| Williams PA, Piechota M, von Ruhland C, Taylor E, Morgan JE, Votruba M.
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| Brain. 135(Pt 2):493-505. 2012
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| 15 | OPA1
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| Loss of OPA1 disturbs cellular calcium homeostasis and sensitizes for excitotoxicity.
|
| Kushnareva YE, Gerencser AA, Bossy B, Ju WK, White AD, Waggoner J, Ellisman MH, Perkins G, Bossy-Wetzel E.
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| Cell Death Differ. 2012
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| 16 | OPA1
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| The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
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| Sarzi E, Angebault C, Seveno M, Gueguen N, Chaix B, Bielicki G, Boddaert N, Mausset-Bonnefont AL, Cazevieille C, Rigau V, Renou JP, Wang J, Delettre C, Brabet P, Puel JL, Hamel CP, Reynier P, Lenaers G.
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| Brain. 135(Pt 12):3599-613. 2012
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| 17 | OPA1
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| The effect of OPA1 on mitochondrial Ca²⁺ signaling.
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| Fülöp L, Szanda G, Enyedi B, Várnai P, Spät A.
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| PLoS One. 6(9):e25199. 2011
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| 18 | OPA1
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| Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.
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| Baker MR, Fisher KM, Whittaker RG, Griffiths PG, Yu-Wai-Man P, Chinnery PF.
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| Neurology 77(13):1309-12. Epub 2011 Sep 14. No abstract available.
2011
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| 19 | OPA1
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| Down-regulation of OPA1 in patients with primary open angle glaucoma.
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| Bosley TM, Hellani A, Spaeth GL, Myers J, Katz LJ, Moster MR, Milcarek B, Abu-Amero KK.
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| Mol Vis 17:1074-9.
2011
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| 20 | FIS1, HD, HTT, MFN1, MFN2, OPA1, PPID, TOMM40
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| Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damage.
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| Shirendeb U, Reddy AP, Manczak M, Calkins MJ, Mao P, Tagle DA, Reddy PH.
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| Hum Mol Genet 20(7):1438-55. Epub 2011 Jan 21.
2011
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| 21 | OPA1
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| Optic atrophy 1 is an A-kinase anchoring protein on lipid droplets that mediates adrenergic control of lipolysis.
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| Pidoux G, Witczak O, Jarnæss E, Myrvold L, Urlaub H, Stokka AJ, Küntziger T, Taskén K.
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| EMBO J. 30(21):4371-86. 2011
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| 22 | OPA1
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| Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
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| Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F.
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| Mol Genet Metab 103(4):383-7. Epub 2011 May 7.
2011
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| 23 | BNIP3, OPA1
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| The BH3-only Bnip3 binds to the dynamin Opa1 to promote mitochondrial fragmentation and apoptosis by distinct mechanisms.
|
| Landes T, Emorine LJ, Courilleau D, Rojo M, Belenguer P, Arnauné-Pelloquin L.
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| EMBO Rep 11(6):459-65. Epub 2010 Apr 30.
2010
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| 24 | OPA1
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| OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.
|
| Ban T, Heymann JA, Song Z, Hinshaw JE, Chan DC.
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| Hum Mol Genet 19(11):2113-22. Epub 2010 Feb 25.PMID: 20185555 2010
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| 25 | OPA1
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| OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
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| Yu-Wai-Man P, Sitarz KS, Samuels DC, Griffiths PG, Reeve AK, Bindoff LA, Horvath R, Chinnery PF.
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| Hum Mol Genet 19(15):3043-52. Epub 2010 May 18.PMID: 20484224 2010
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| 26 | OPA1
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| Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy.
|
| Williams PA, Morgan JE, Votruba M.
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| Brain. 133(10):2942-51. 2010
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| 27 | OPA1, PRELID1
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| Vital function of PRELI and essential requirement of its LEA motif.
|
| McKeller MR, Herrera-Rodriguez S, Ma W, Ortiz-Quintero B, Rangel R, Candé C, Sims-Mourtada JC, Melnikova V, Kashi C, Phan LM, Chen Z, Huang P, Dunner K Jr, Kroemer G, Singh KK, Martinez-Valdez H.
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| Cell Death Dis 1:e21. doi: 10.1038/cddis.2009.19.
2010
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| 28 | OPA1
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| Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
|
| Fuhrmann N, Alavi MV, Bitoun P, Woernle S, Auburger G, Leo-Kottler B, Yu-Wai-Man P, Chinnery P, Wissinger B.
|
| J Med Genet 46(2):136-44.
2009
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| 29 | OPA1
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| Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production.
|
| Tang S, Le PK, Tse S, Wallace DC, Huang T.
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| PLoS One. 4(2):e4492. 2009
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| 30 | OMA1, OPA1
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| Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1.
|
| Ehses S, Raschke I, Mancuso G, Bernacchia A, Geimer S, Tondera D, Martinou JC, Westermann B, Rugarli EI, Langer T.
|
| J Cell Biol 187(7):1023-36. doi: 10.1083/jcb.200906084.
2009
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| 31 | OMA1, OPA1, YME1L1
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| Inducible proteolytic inactivation of OPA1 mediated by the OMA1 protease in mammalian cells.
|
| Head B, Griparic L, Amiri M, Gandre-Babbe S, van der Bliek AM.
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| J Cell Biol 187(7):959-66. doi: 10.1083/jcb.200906083.
2009
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| 32 | OPA1
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| A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
|
| Spinazzi M, Cazzola S, Bortolozzi M, Baracca A, Loro E, Casarin A, Solaini G, Sgarbi G, Casalena G, Cenacchi G, Malena A, Frezza C, Carrara F, Angelini C, Scorrano L, Salviati L, Vergani L.
|
| Hum Mol Genet 17(21):3291-302. Epub 2008 Aug 4.
2008
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| 33 | OADOM, OPA1
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| Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
|
| Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW.
|
| Brain 131(Pt 2):329-37. Epub 2007 Dec 7.PMID: 18065439 2008
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| 34 | OPA1
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| OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion.
|
| Zanna C, Ghelli A, Porcelli AM, Karbowski M, Youle RJ, Schimpf S, Wissinger B, Pinti M, Cossarizza A, Vidoni S, Valentino ML, Rugolo M, Carelli V.
|
| Brain 131(Pt 2):352-67.PMID: 18222991 2008
|
| 35 | OPA1
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| The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment.
|
| Yarosh W, Monserrate J, Tong JJ, Tse S, Le PK, Nguyen K, Brachmann CB, Wallace DC, Huang T.
|
| PLoS Genet. 4(1):e6. doi: 10.1371 2008
|
| 36 | OPA1
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| Reduction of oscillatory potentials and photopic negative response in patients with autosomal dominant optic atrophy with OPA1 mutations.
|
| Miyata K, Nakamura M, Kondo M, Lin J, Ueno S, Miyake Y, Terasaki H.
|
| Invest Ophthalmol Vis Sci 48(2):820-4. 2007
|
| 37 | OPA1
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| Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
|
| Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA.
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| Am J Ophthalmol 143(4):656-62. Epub 2007 Feb 15. 2007
|
| 38 | OPA1
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| OPA1 alternate splicing uncouples an evolutionary conserved function in mitochondrial fusion from a vertebrate restricted function in apoptosis.
|
| Olichon A, Elachouri G, Baricault L, Delettre C, Belenguer P, Lenaers G.
|
| Cell Death Differ 14(4):682-92. Epub 2006 Oct 6. 2007
|
| 39 | OPA1
|
| Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations.
|
| Ito Y, Nakamura M, Yamakoshi T, Lin J, Yatsuya H, Terasaki H.
|
| Invest Ophthalmol Vis Sci 48(9):4079-86. 2007
|
| 40 | OPA1
|
| Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
|
| Davies VJ, Hollins AJ, Piechota MJ, Yip W, Davies JR, White KE, Nicols PP, Boulton ME, Votruba M.
|
| Hum Mol Genet. 16(11):1307-18. 2007
|
| 41 | OPA1
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| A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
|
| Alavi MV, Bette S, Schimpf S, Schuettauf F, Schraermeyer U, Wehrl HF, Ruttiger L, Beck SC, Tonagel F, Pichler BJ, Knipper M, Peters T, Laufs J, Wissinger B.
|
| Brain. 130(Pt 4):1029-42. 2007
|
| 42 | OPA1
|
| Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene.
|
| Schimpf S, Schaich S, Wissinger B.
|
| Hum Genet 118(6):767-71. Epub 2005 Dec 2. 2006
|
| 43 | OPA1
|
| Novel OPA1 mutations identified in Japanese pedigrees with optic atrophy.
|
| Qin M, Kondo H, Uno H, Fujiwara E, Uchio E, Tahira T, Hayashi K.
|
| Mol Vis 12:485-91. 2006
|
| 44 | OPA1
|
| A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.
|
| Cardaioli E, Gallus GN, Da Pozzo P, Rufa A, Franceschini R, Motolese E, Caporossi A, Dotti MT, Federico A.
|
| J Neurol 253(5):672-3. Epub 2005 Dec 12. No abstract available. 2006
|
| 45 | OPA1
|
| Mitochondrial dynamics and disease, OPA1.
|
| Olichon A, Guillou E, Delettre C, Landes T, ArnaunŽ-Pelloquin L, Emorine LJ, Mils V, Daloyau M, Hamel C, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Belenguer P.
|
| Biochim Biophys Acta 1763(5-6):500-9. Epub 2006 Apr 20. Review. 2006
|
| 46 | OPA1
|
| Regulation of mitochondrial morphology through proteolytic cleavage of OPA1.
|
| Ishihara N, Fujita Y, Oka T, Mihara K.
|
| EMBO J 25(13):2966-77. Epub 2006 Jun 15. 2006
|
| 47 | OPA1
|
| OPA1 expression in the human retina and optic nerve.
|
| Wang AG, Fann MJ, Yu HY, Yen MY.
|
| Exp Eye Res 83(5):1171-8. Epub 2006 Jul 18.
2006
|
| 48 | OPA1, OADOM
|
| OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
|
| Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthiery Y, Bonneau D, Lenaers G, Reynier P.
|
| Ann Neurol 58(6):958-63. 2005
|
| 49 | OPA1
|
| OPA1, associated with autosomal dominant optic atrophy, is widely expressed in the human brain.
|
| Bette S, Schlaszus H, Wissinger B, Meyermann R, Mittelbronn M.
|
| Acta Neuropathol (Berl) 109(4):393-9. Epub 2005 Feb 8. 2005
|
| 50 | OPA1
|
| Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.
|
| Hayashi T, Gekka T, Omoto S, Takeuchi T, Kitahara K.
|
| Ophthalmic Res 37(4):214-24. Epub 2005 Jul 5. 2005
|
| 51 | OPA1, MFN1, MFN2
|
| OPA1 requires mitofusin 1 to promote mitochondrial fusion.
|
| Cipolat S, Martins de Brito O, Dal Zilio B, Scorrano L.
|
| Proc Natl Acad Sci U S A 101(45):15927-32. Epub 2004 Oct 27. 2004
|
| 52 | OPA1
|
| OPA1, the disease gene for autosomal dominant optic atrophy, is specifically expressed in ganglion cells and intrinsic neurons of the retina.
|
| Pesch UE, Fries JE, Bette S, Kalbacher H, Wissinger B, Alexander C, Kohler K.
|
| Invest Ophthalmol Vis Sci 45(11):4217-25. 2004
|
| 53 | OADOM, OPA1
|
| Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1.
|
| Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K.
|
| Am J Ophthalmol 138(5):749-55. 2004
|
| 54 | OPA1
|
| The importance of dendritic mitochondria in the morphogenesis and plasticity of spines and synapses.
|
| Li Z, Okamoto K, Hayashi Y, Sheng M.
|
| Cell. 119(6):873-87. 2004
|
| 55 | OPA1
|
| Differential sublocalization of the dynamin-related protein OPA1 isoforms in mitochondria.
|
| Satoh M, Hamamoto T, Seo N, Kagawa Y, Endo H.
|
| Biochem Biophys Res Commun 300(2):482-93. 2003
|
| 56 | OADOM, OPA1
|
| The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.
|
| Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiery Y, Reynier P, Bonneau D.
|
| Am J Ophthalmol 136(6):1170-1. 2003
|
| 57 | OPA1
|
| OPA1 (Kjer Type) Dominant Optic Atrophy: A Novel Mitochondrial Disease.
|
| Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP.
|
| Mol Genet Metab 75(2):97-107. 2002
|
| 58 | GLC1E, OPTN, OPA1
|
| Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
|
| Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Heon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M.
|
| Science 295(5557):1077-9. 2002
|
| 59 | OPA1
|
| Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma.
|
| Aung T, Ocaka L, Ebenezer ND, Morris AG, Brice G, Child AH, Hitchings RA, Lehmann OJ, Bhattacharya SS.
|
| Hum Genet 110(5):513-4. 2002
|
| 60 | OPA1
|
| The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space.
|
| Olichon A, Emorine LJ, Descoins E, Pelloquin L, Brichese L, Gas N, Guillou E, Delettre C, Valette A, Hamel CP, Ducommun B, Lenaers G, Belenguer P.
|
| FEBS Lett 523(1-3):171-6. 2002
|
| 61 | OPA1
|
| A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
|
| Ocaka L, Ebenezer ND, Morris AG, Krawczak M, Thiselton DL, Alexander C, Votruba M, Brice G, Child AH, Francis PJ, Hitchings RA, Lehmann OJ, Bhattacharya SS.
|
| Hum Genet 110(1):52-6. Epub 2001 Nov 23. 2002
|
| 62 | OPA1
|
| A high-density transcript map of the human dominant optic atrophy OPA1 gene locus and re-evaluation of evidence for a founder haplotype.
|
| Murton NJ, French L, Toomes C, Joseph SS, Rehman I, Hopkins BL, Inglehearn CF, Churchill AJ.
|
| Cytogenet Cell Genet 92(1-2):97-102. 2001
|
| 63 | OPA1, RPL35A, SDHALP1
|
| Physical and transcript map of the dominant optic atrophy (opa1) gene critical region at 3q28-q29.
|
| Behnam JT, Hamer C, Spalton D, Johnston R, Seller MJ.
|
| Genomics 72(2):213-6. 2001
|
| 64 | OPA1
|
| Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.
|
| Toomes C, Marchbank NJ, Mackey DA, Craig JE, Newbury-Ecob RA, Bennett CP, Vize CJ, Desai SP, Black GC, Patel N, Teimory M, Markham AF, Inglehearn CF, Churchill AJ.
|
| Hum Mol Genet 10(13):1369-78. 2001
|
| 65 | OPA1
|
| OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
|
| Pesch UE, Leo-Kottler B, Mayer S, Jurklies B, Kellner U, Apfelstedt-Sylla E, Zrenner E, Alexander C, Wissinger B.
|
| Hum Mol Genet 10(13):1359-68. 2001
|
| 66 | OPA1
|
| A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
|
| Thiselton DL, Alexander C, Morris A, Brooks S, Rosenberg T, Eiberg H, Kjer B, Kjer P, Bhattacharya SS, Votruba M.
|
| Hum Genet 109(5):498-502. 2001
|
| 67 | OPA1
|
| Mutation spectrum and splicing variants in the OPA1 gene.
|
| Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP.
|
| Hum Genet 109(6):584-91. 2001
|
| 68 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
|
| Nuclear genetic defects of oxidative phosphorylation.
|
| Shoubridge EA.
|
| Hum Mol Genet 10(20):2277-84. Review. 2001
|
| 69 | OPA1
|
| Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
|
| Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP.
|
| Nat Genet 26(2):207-10. 2000
|
| 70 | OPA1
|
| OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
|
| Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B.
|
| Nat Genet 26(2):211-5. 2000
|
| 71 | OPA1
|
| Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method. A study of 38 British Isles pedigrees.
|
| Votruba M, Moore AT, Bhattacharya SS.
|
| Hum Genet 102(1):79-86. 1998
|
| 72 | OPA1, OPA4
|
| Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
|
| Votruba M, et al.
|
| J Med Genet 35 : 793-800. 1998
|
| 73 | HES1, OPA1
|
| Dominant optic atrophy : exclusion and fine genetic mapping of the candidate gene, HRY.
|
| Votruba M, et al.
|
| Mamm Genome 9 : 784-787. 1998
|
| 74 | OPA1
|
| Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig.
|
| Jonasdottir A, et al.
|
| Hum Genet 99 : 115-120. 1997
|
| 75 | OPA1
|
| Dominant optic atrophy, Kjer type.
|
| Johnston RL, et al.
|
| Arch Ophthalmol 115 : 100-103. 1997
|
| 76 | OPA1
|
| Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1).
|
| Brown J, et al.
|
| Arch Ophthalmol 115 : 95-99. 1997
|
| 77 | OPA1
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| Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q.
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| Votruba M, et al.
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| J Med Genet 34 : 117-121. 1997
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| 78 | OPA1
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| Refinement of the locus for autosomal dominant juvenile optic atrophy to a 2 cM region on 3q28.
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| Stoilova D, et al.
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| Ophthalmic Genet 18 : 1-6. 1997
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| 79 | OPA1
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| Linkage studies in dominant optic atrophy, Kjer type : possible evidence for heterogeneity.
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| Seller MJ, Behnam JT, Lewis CM, Johnston RL, Burdon MA, Spalton DJ.
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| J Med Genet 34(12):967-72. 1997
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| 80 | OPA1
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| Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer.
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| Lunkes A, et al.
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| Am J Hum Genet 57 : 968-970. 1995
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| 81 | OPA1
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| No evidence of genetic heterogeneity in dominant optic atrophy.
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| Bonneau D, et al.
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| J Med Genet 32 : 951-953. 1995
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| 82 | OPA1
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| Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. linkage analysis.
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| Eiberg H, et al.
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| Hum Mol Genet 3 : 977-980. 1994
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