| 1 | ACO2, OPA9
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| Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
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| Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group, Lenaers G.
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| Brain Commun. Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. 2021
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| 2 | ACO2, SCD1
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| Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling.
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| ou X, Tian J, Zhang H, Guo Y, Yang J, Zhu C, Song M, Wang P, Liu Z, Cancilla J, Lu W, Glorieux C, Wen S, Du H, Huang P, Hu Y.
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| Mol Metab. Jun;48:101203. doi: 10.1016/j.molmet.2021.101203. Epub 2021 Mar 3. 2021
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| 3 | ACO2, ICRD, OPA9
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| Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
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| Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DA.
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| Am J Med Genet A. Aug;182(8):1960-1966. doi: 10.1002/ajmg.a.61634. Epub 2020 May 25. 2020
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| 4 | ACO2, ICRD
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| Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2
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| Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC.
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| Ann Clin Transl Neurol. Jun;7(6):1013-1028. doi: 10.1002/acn3.51074. Epub 2020 Jun 9 2020
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| 5 | ACO2, OPA9
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| Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
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| Neumann MA, Grossmann D, Schimpf-Linzenbold S, Dayan D, Stingl K, Ben-Menachem R, Pines O, Massart F, Delcambre S, Ghelfi J, Bohler J, Strom T, Kessel A, Azem A, Schöls L, Grünewald A, Wissinger B, Krüger R.
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| Sci Rep. Oct 7;10(1):16736. doi: 10.1038/s41598-020-73557-4 2020
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| 6 | ACO2, ICRD
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| ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia.
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| Bouwkamp CG, Afawi Z, Fattal-Valevski A, Krabbendam IE, Rivetti S, Masalha R, Quadri M, Breedveld GJ, Mandel H, Tailakh MA, Beverloo HB, Stevanin G, Brice A, van IJcken WFJ, Vernooij MW, Dolga AM, de Vrij FMS, Bonifati V, Kushner SA.
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| Neurol Genet. Mar 21;4(2):e223. doi: 10.1212/NXG.0000000000000223. 2018
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| 7 | ACO2
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| Mitochondrial Aconitase in Neurodegenerative Disorders: Role of a Metabolism- related Molecule in Neurodegeneration.2018;. PMID:
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| Khodagholi F, Shaerzadeh F, Montazeri F
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| Curr Drug Targets. 19(8):973-985. doi: 10.2174/1389450118666170816124203 2018
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| 8 | ACO2
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| Altered Aconitase 2 Activity in Huntington's Disease Peripheral Blood Cells and Mouse Model Striatum
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| Chen CM, Wu YR, Chang KH.
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| Int J Mol Sci. Nov 21;18(11):2480. doi: 10.3390/ijms18112480 2017
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| 9 | ACO2, OGG1
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| Mitochondria-targeted Ogg1 and aconitase-2 prevent oxidant-induced mitochondrial DNA damage in alveolar epithelial cells.
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| Kim SJ, Cheresh P, Williams D, Cheng Y, Ridge K, Schumacker PT, Weitzman S, Bohr VA, Kamp DW.
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| J Biol Chem 289(9):6165-76. doi: 10.1074/jbc.M113.515130. Epub 2014 Jan 15.
2014
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| 10 | ACO2, OPA9
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| Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
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| Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gérard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rötig A, Rozet JM, Besmond C.
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| J Med Genet 51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.
2014
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| 11 | ACO2, ICRD
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| Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2.
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| Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, Edvardson S, Mahajna M, Zenvirt S, Saada A, Shalev S, Feuk L, Elpeleg O.
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| Am J Hum Genet 90(3):518-523.
2012
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| 12 | ACO2
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| p53 downregulates the gene expression of mitochondrial aconitase in human prostate carcinoma cells.
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| Tsui KH, Feng TH, Lin YF, Chang PL, Juang HH.
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| Prostate 71(1):62-70.
2011
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| 13 | ACO2
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| Regulation of mitochondrial aconitase by phosphorylation in diabetic rat heart.
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| Lin G, Brownsey RW, MacLeod KM.
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| Cell Mol Life Sci 66(5):919-32.
2009
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| 14 | ACO2
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| Characterization of the mitochondrial aconitase promoter and the identification of transcription factor binding.
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| Yu Z, Costello LC, Feng P, Franklin RB.
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| Prostate 66(10):1061-9.
2006
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| 15 | ACO2, FXN
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| Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.
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| Bulteau AL, O'Neill HA, Kennedy MC, Ikeda-Saito M, Isaya G, Szweda LI.
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| Science 305(5681):242-5.
2004
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| 16 | ACO2
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| Characterization of the human mitochondrial aconitase gene (ACO2).
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| Mirel DB, Marder K, Graziano J, Freyer G, Zhao Q, Mayeux R, Wilhelmsen KC.
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| Gene 213(1-2):205-18. 1998
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| 17 | ACO2, FXN
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| Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.
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| Rotig A, de Lonlay P, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P.
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| Nat Genet 17(2):215-7. 1997
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| 18 | ACO2, ARSA, CYB5R3
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| Regional mapping of DIA1, ARSA and ACO2 on chromosome 22 using hybrids with a t(15;22)(q14;q13:31) translocation.
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| Francke U, et al.
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| Cytogenet Cell Genet 32 : 276-277. 1982
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| 19 | ACO2, ARSA, CYB5R3
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| Regional assignment of arylsulfatase A, mitochondrial aconitase and NADH-cytochrome b5 reductase by somatic cell hybridization.
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| Hors-Cayla MC, et al.
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| Hum Genet 58 : 140-143. 1981
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| 20 | ACO2, ARSA
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| Regional localization of the genes coding for human ACO2,ARSA and NAGA on chromosome 22.
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| Geurts van Kessel AHM, et al.
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| Cytogenet Cell Genet 28 : 169-172. 1980
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| 21 | ACO2
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| Assignment of the mitochondrial aconitase gene (ACONm) to human chromosome 22.
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| Meera Khan P, et al.
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| Cytogenet Cell Genet 22 : 212-214. 1978
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| 22 | ACO2
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| Assignment of the locus ACONm to chromosome 22.
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| Slaughter CA, et al.
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| Cytogenet Cell Genet 22 : 223-225. 1978
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| 23 | ACO2
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| Aconitase (E.C. 4.2.1.3) mitochondrial locus (ACONm) mapped to human chromosome 22.
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| Sparkes RS, et al.
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| Cytogenet Cell Genet 22 : 226-227. 1978
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