Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
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M. Carbonelli | P. Gohier | P. Yu-Wai-Man | C. Bris | D. Goudenège | V. Desquiret-Dumas | Majida Charif | D. Bonneau | P. Amati‐Bonneau | G. Lenaers | P. Reynier | V. Procaccio | A. Barakat | V. Carelli | S. Khiati | B. Wissinger | C. Verny | U. Kellner | N. Weisschuh | M. Ferré | A. Chevrollier | S. Chupin | F. Tagliavini | L. Caporali | Jennifer Alban | N. Gueguen | M. Barth | X. Zanlonghi | N. Jurkute | I. Meunier | Zouhair Elkarhat | F. Tonagel | Selma Kane | Simone Schimpf-Linzenbold | Céline Wetterwald | Morgane LeMao | Chiara LaMorgia | M. Charif | Neringa Jurkute
[1] P. Yu-Wai-Man,et al. Dominant optic atrophy: Culprit mitochondria in the optic nerve , 2020, Progress in Retinal and Eye Research.
[2] H. Charoute,et al. Identification of deleterious missense variants of human Piwi like RNA-mediated gene silencing 1 gene and their impact on PAZ domain structure, stability, flexibility and dimension: in silico analysis , 2020, Journal of biomolecular structure & dynamics.
[3] C. La Morgia,et al. Mitochondrial diseases in adults , 2020, Journal of internal medicine.
[4] F. Alkuraya,et al. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2 , 2020, Annals of clinical and translational neurology.
[5] Mahshid S. Azamian,et al. Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes , 2020, American journal of medical genetics. Part A.
[6] M. Votruba,et al. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy , 2020, Neurology: Genetics.
[7] M. Zeviani,et al. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy , 2020, Annals of neurology.
[8] M. Tarnopolsky,et al. An evaluation of genetic causes and environmental risks for bilateral optic atrophy , 2019, PloS one.
[9] H. Wilhelm,et al. Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy , 2019, The Journal of clinical investigation.
[10] E. Bertini,et al. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. , 2019, The Journal of clinical investigation.
[11] M. Votruba,et al. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration , 2019, Annals of neurology.
[12] N. Matsumoto,et al. Identification of novel compound heterozygous mutations in ACO2 in a patient with progressive cerebral and cerebellar atrophy , 2019, Molecular genetics & genomic medicine.
[13] E. Bertini,et al. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome , 2019, Journal of inherited metabolic disease.
[14] C. Fraser,et al. A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene , 2018, Ophthalmic genetics.
[15] Torsten Schwede,et al. SWISS-MODEL: homology modelling of protein structures and complexes , 2018, Nucleic Acids Res..
[16] S. Kushner,et al. ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia , 2018, Neurology: Genetics.
[17] M. Koenig,et al. ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia , 2018, Neurology: Genetics.
[18] N. Boddaert,et al. Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission , 2017, Brain : a journal of neurology.
[19] A. Fulton,et al. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant , 2017, Journal of child neurology.
[20] A. Munnich,et al. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy , 2016, Journal of Medical Genetics.
[21] G. Lenaers,et al. WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. , 2016, Ophthalmology.
[22] Thomas Meitinger,et al. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy. , 2016, American journal of human genetics.
[23] Raymond Dalgleish,et al. HGVS Recommendations for the Description of Sequence Variants: 2016 Update , 2016, Human mutation.
[24] S. Dimauro,et al. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. , 2016, Molecular genetics and metabolism.
[25] B. Lorenz,et al. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. , 2015, American Journal of Human Genetics.
[26] J. Sebag,et al. Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements , 2015, PloS one.
[27] A. Munnich,et al. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy , 2014, Journal of Medical Genetics.
[28] Gert Vriend,et al. YASARA View—molecular graphics for all devices—from smartphones to workstations , 2014, Bioinform..
[29] Jana Marie Schwarz,et al. MutationTaster2: mutation prediction for the deep-sequencing age , 2014, Nature Methods.
[30] G. Savini,et al. Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration. , 2013, Brain : a journal of neurology.
[31] Peter M. Kasson,et al. GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit , 2013, Bioinform..
[32] I. Adzhubei,et al. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.
[33] D. Milea,et al. Dominant optic atrophy , 2012, Orphanet Journal of Rare Diseases.
[34] Jing Hu,et al. SIFT web server: predicting effects of amino acid substitutions on proteins , 2012, Nucleic Acids Res..
[35] L. Feuk,et al. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. , 2012, American journal of human genetics.
[36] D. Turnbull,et al. Multi-system neurological disease is common in patients with OPA1 mutations , 2010, Brain : a journal of neurology.
[37] David S. Goodsell,et al. AutoDock4 and AutoDockTools4: Automated docking with selective receptor flexibility , 2009, J. Comput. Chem..
[38] J. Mazat,et al. Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis. , 2009, Mitochondrion.
[39] A. Munnich,et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. , 2009, American journal of human genetics.
[40] D. Mackey,et al. The natural history of OPA1-related autosomal dominant optic atrophy , 2008, British Journal of Ophthalmology.
[41] P. Calvas,et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract , 2004, Journal of Medical Genetics.
[42] C. Stout,et al. The mechanism of aconitase: 1.8 Å resolution crystal structure of the S642A:citrate complex , 1999, Protein science : a publication of the Protein Society.
[43] M. Votruba,et al. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. , 1998, Journal of medical genetics.
[44] Alexander D. MacKerell,et al. All-atom empirical potential for molecular modeling and dynamics studies of proteins. , 1998, The journal of physical chemistry. B.
[45] H. Krebs,et al. The conversion of citrate into cis-aconitate and isocitrate in the presence of aconitase. , 1952, The Biochemical journal.
[46] Robert W. Taylor,et al. Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults , 2018, JAMA neurology.
[47] J. Pouget,et al. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. , 2012, Brain : a journal of neurology.
[48] C. Martins. Über den Abbau der Citronensäure. , 1937 .