| AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients. | AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
Amore G, Romagnoli M, Carbonelli M, Cascavilla ML, De Negri AM, Carta A, Parisi V, Di Renzo A, Schiavi C, Lenzetti C, Zenesini C, Ormanbekova D, Palombo F, Fiorini C, Caporali L, Carelli V, Barboni P, La Morgia C. | 08/12/2024 |
| ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes. | ACO2 deficiency increases vulnerability to Parkinson's disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes.
Zhu J, Xu F, Lai H, Yuan H, Li XY, Hu J, Li W, Liu L, Wang C., Free PMC Article | 11/29/2023 |
| Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling. | Loss of mitochondrial aconitase promotes colorectal cancer progression via SCD1-mediated lipid remodeling.
You 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., Free PMC Article | 01/22/2022 |
| Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes. | Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes.
Gibson S, Azamian MS, Lalani SR, Yen KG, Sutton VR, Scott DA. | 06/5/2021 |
| Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. | Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
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., Free PMC Article | 04/24/2021 |
| Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy. | Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy.
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., Free PMC Article | 12/12/2020 |
| ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas. | ACO2 and ANPEP as novel prognostic markers for gallbladder squamous cell/adenosquamous carcinomas and adenocarcinomas.
Liu Z, Yang Z, Xiong L, Li D, Zou Q, Yuan Y. | 09/19/2020 |
| This work identifies ACO2 as a relevant gene in cancer metabolic rewiring of MCF-7 cells, promoting a different utilisation of pyruvate and revealing the potential metabolic vulnerability of ACO2-associated malignancies. | Aconitase 2 inhibits the proliferation of MCF-7 cells promoting mitochondrial oxidative metabolism and ROS/FoxO1-mediated autophagic response.
Ciccarone F, Di Leo L, Lazzarino G, Maulucci G, Di Giacinto F, Tavazzi B, Ciriolo MR., Free PMC Article | 07/18/2020 |
| Study showed that the expression of ACO2 was significantly increased in prostate cancer (PC) tissues and identified a positive correlation between ACO2 expression and the malignancy of prostate cancer. ACO2 protein expression and activity was higher in paclitaxel-resistant PC3 cells than in PTX-sensitive DU145 cells. These results indicate that ACO2 plays an important role in the development and drug resistance of PC. | Zinc cooperates with p53 to inhibit the activity of mitochondrial aconitase through reactive oxygen species accumulation.
Xue YN, Liu YN, Su J, Li JL, Wu Y, Guo R, Yu BB, Yan XY, Zhang LC, Sun LK, Li Y., Free PMC Article | 06/13/2020 |
| The study provides the most extensive cohort of patients and further delineates the clinical, radiological, biochemical, and molecular features of ACO2 deficiency. | Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
Sharkia R, Wierenga KJ, Kessel A, Azem A, Bertini E, Carrozzo R, Torraco A, Goffrini P, Ceccatelli Berti C, McCormick ME, Plecko B, Klein A, Abela L, Hengel H, Schöls L, Shalev S, Khayat M, Mahajnah M, Spiegel R. | 05/30/2020 |
| Dysfunctional mitochondrail Aco2, among the other bioenergetic parameters, is a key factor that could promote neurodegeneration | Mitochondrial Aconitase in Neurodegenerative Disorders: Role of a Metabolism- related Molecule in Neurodegeneration.
Khodagholi F, Shaerzadeh F, Montazeri F. | 10/19/2019 |
| Mutation in ACO2 gene is associated with optic neuropathy. | A sibling study of isolated optic neuropathy associated with novel variants in the ACO2 gene.
Kelman JC, Kamien BA, Murray NC, Goel H, Fraser CL, Grigg JR. | 04/13/2019 |
| Aco2 activity correlated significantly with motor score, independence scale, and functional capacity of the Unified Huntington's Disease Rating Scale as well as disease duration. Our study provides a potential biomarker to assess the disease status of HD patients and PreHD carriers. | Altered Aconitase 2 Activity in Huntington's Disease Peripheral Blood Cells and Mouse Model Striatum.
Chen CM, Wu YR, Chang KH., Free PMC Article | 07/7/2018 |
| Results suggest that ACO2 activity is reduced in peripheral lymphocytes of subjects with Alzheimer's disease and mild cognitive impairment and correlates with antioxidant protection | Lymphocytic mitochondrial aconitase activity is reduced in Alzheimer's disease and mild cognitive impairment.
Mangialasche F, Baglioni M, Cecchetti R, Kivipelto M, Ruggiero C, Piobbico D, Kussmaul L, Monastero R, Brancorsini S, Mecocci P. | 09/26/2015 |
| Our study shows that autosomal recessive ACO2 mutations can cause either isolated or syndromic optic neuropathy. | Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy.
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. | 07/25/2015 |
| immunofluorescence staining localized ACO2 to the human sperm mid-piece. By immunoblotting, we demonstrated that the level of ACO2 protein in asthenozoospermic samples was significantly decreased compared with that in normal fertile men | The role of mitochondrial aconitate (ACO2) in human sperm motility.
Tang M, Liu BJ, Wang SQ, Xu Y, Han P, Li PC, Wang ZJ, Song NH, Zhang W, Yin CJ. | 06/20/2015 |
| Ogg1 chaperoning of Aco-2 in preventing oxidant-mediated mtDNA damage and apoptosis may afford an innovative target for the molecular events underlying oxidant-induced toxicity. | Mitochondria-targeted Ogg1 and aconitase-2 prevent oxidant-induced mitochondrial DNA damage in alveolar epithelial cells.
Kim SJ, Cheresh P, Williams D, Cheng Y, Ridge K, Schumacker PT, Weitzman S, Bohr VA, Kamp DW., Free PMC Article | 04/26/2014 |
| Hypoxia upregulates the gene expression of mitochondrial aconitase in prostate carcinoma cells | Hypoxia upregulates the gene expression of mitochondrial aconitase in prostate carcinoma cells.
Tsui KH, Chung LC, Wang SW, Feng TH, Chang PL, Juang HH. | 01/11/2014 |
| Gastric cancer patients with lower ACO2 expression have a shorter survival time than those with higher ACO2 expression. | Decreased expression of the mitochondrial metabolic enzyme aconitase (ACO2) is associated with poor prognosis in gastric cancer.
Wang P, Mai C, Wei YL, Zhao JJ, Hu YM, Zeng ZL, Yang J, Lu WH, Xu RH, Huang P. | 10/26/2013 |
| Homozygosity mapping followed by whole-exome sequencing disclosed a Ser112Arg mutation in ACO2. | Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.
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., Free PMC Article | 07/14/2012 |
| these results suggest that p53 downregulation of mACON gene expression in human prostate carcinoma cells may not occur through the putative consensus p53 response elements found within the mACON promoter. | p53 downregulates the gene expression of mitochondrial aconitase in human prostate carcinoma cells.
Tsui KH, Feng TH, Lin YF, Chang PL, Juang HH. | 01/1/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ., Free PMC Article | 12/5/2010 |
| abolishes oxidant-induced apoptosis | Role of mitochondrial hOGG1 and aconitase in oxidant-induced lung epithelial cell apoptosis.
Panduri V, Liu G, Surapureddi S, Kondapalli J, Soberanes S, de Souza-Pinto NC, Bohr VA, Budinger GR, Schumacker PT, Weitzman SA, Kamp DW., Free PMC Article | 02/8/2010 |
| This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia. | Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
Martins-de-Souza D, Gattaz WF, Schmitt A, Novello JC, Marangoni S, Turck CW, Dias-Neto E., Free PMC Article | 05/29/2009 |
| This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. | Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.
Martins-de-Souza D, Gattaz WF, Schmitt A, Maccarrone G, Hunyadi-Gulyás E, Eberlin MN, Souza GH, Marangoni S, Novello JC, Turck CW, Dias-Neto E. | 12/29/2008 |