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Page 1
Neuro-Ophthalmic Phenotype of OPA3.
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S. Huna-Baron R, et al. J Neuroophthalmol. 2022 Mar 1;42(1):e147-e152. doi: 10.1097/WNO.0000000000001249. Epub 2021 Apr 14. J Neuroophthalmol. 2022. PMID: 33870938
BACKGROUND: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy. Since Costeff described the phenotype of 19 patients in 1989, several reports described approximately 50 patients, but most …
BACKGROUND: Type III 3-methylglutaconic aciduria (OPA 3) is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic …
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ. Yu-Wai-Man P, et al. Ophthalmology. 2011 Mar;118(3):558-63. doi: 10.1016/j.ophtha.2010.07.029. Epub 2010 Oct 30. Ophthalmology. 2011. PMID: 21036400 Free PMC article.
PURPOSE: Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, and it is genetically heterogeneous, with mutations in both OPA1 and OPA3 known to cause disease. ...PARTICIPANTS: One hundred eighty-eight p …
PURPOSE: Autosomal-dominant optic atrophy (DOA) is one of the most common inherited optic neuropathies, a …
Hydrogen sulfide alleviates mitochondrial damage and ferroptosis by regulating OPA3-NFS1 axis in doxorubicin-induced cardiotoxicity.
Wang Y, Ying X, Wang Y, Zou Z, Yuan A, Xiao Z, Geng N, Qiao Z, Li W, Lu X, Pu J. Wang Y, et al. Cell Signal. 2023 Jul;107:110655. doi: 10.1016/j.cellsig.2023.110655. Epub 2023 Mar 15. Cell Signal. 2023. PMID: 36924813
We further demonstrated that the protective effect of H(2)S was mediated by the key mitochondrial membrane protein optic atrophy 3 (OPA3), which was downregulated by DOX and restored by exogenous H(2)S. ...
We further demonstrated that the protective effect of H(2)S was mediated by the key mitochondrial membrane protein optic atrophy …
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
Davies VJ, Powell KA, White KE, Yip W, Hogan V, Hollins AJ, Davies JR, Piechota M, Brownstein DG, Moat SJ, Nichols PP, Wride MA, Boulton ME, Votruba M. Davies VJ, et al. Brain. 2008 Feb;131(Pt 2):368-80. doi: 10.1093/brain/awm333. Brain. 2008. PMID: 18222992
Intriguingly, various mutations in the OPA3 gene lead to two similar diseases in humans: autosomal dominant inherited optic atrophy and cataract (ADOAC) and a metabolic condition; type 3-methylglutaconic aciduria (MGA). Early onset bilate …
Intriguingly, various mutations in the OPA3 gene lead to two similar diseases in humans: autosomal dominant inherited optic …
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.
Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K. Arif B, et al. JAMA Neurol. 2013 Jun;70(6):783-7. doi: 10.1001/jamaneurol.2013.1174. JAMA Neurol. 2013. PMID: 23700088
Subsequent ophthalmological assessment revealed bilateral optic atrophy in both patients. CONCLUSIONS AND RELEVANCE: Mutations in OPA3 have been reported in Costeff optic atrophy syndrome. We identify a novel missense mutation in OPA3 as the cause of a …
Subsequent ophthalmological assessment revealed bilateral optic atrophy in both patients. CONCLUSIONS AND RELEVANCE: Mutations …
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
Sergouniotis PI, Perveen R, Thiselton DL, Giannopoulos K, Sarros M, Davies JR, Biswas S, Ansons AM, Ashworth JL, Lloyd IC, Black GC, Votruba M. Sergouniotis PI, et al. Neurogenetics. 2015 Jan;16(1):69-75. doi: 10.1007/s10048-014-0416-y. Epub 2014 Aug 27. Neurogenetics. 2015. PMID: 25159689
Leber hereditary optic neuropathy and autosomal dominant optic atrophy are the two most common inherited optic neuropathies. ...To date, only six families with OPA3-associated dominant optic atrophy have been reported …
Leber hereditary optic neuropathy and autosomal dominant optic atrophy are the two most common inherited …
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Krüger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S. Grau T, et al. J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17. J Med Genet. 2013. PMID: 24136862
BACKGROUND: Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome. Here, we report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum …
BACKGROUND: Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus catar …
18 results