| APTX acts in DNA double-strand break repair in a manner distinct from XRCC4. | APTX acts in DNA double-strand break repair in a manner distinct from XRCC4.
Imamura R, Saito M, Shimada M, Kobayashi J, Ishiai M, Matsumoto Y., Free PMC Article | 05/31/2023 |
| Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene. | Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene.
Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM, Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B, Awidi A. | 08/14/2021 |
| Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents. | Identification of APTX disease-causing mutation in two unrelated Jordanian families with cerebellar ataxia and sensitivity to DNA damaging agents.
Ababneh NA, Ali D, Al-Kurdi B, Sallam M, Alzibdeh AM, Salah B, Ryalat AT, Azab B, Sharrack B, Awidi A., Free PMC Article | 10/10/2020 |
| Aprataxin (APTX) surveils LIG1 activity which suppresses mutagenic and abortive ligation at sites of oxidative DNA damage. APTX provides another tier of damaged DNA substrate discrimination by preferentially intercepting and hydrolyzing AMP-DNA intermediates that contain improper 3' termini. | Two-tiered enforcement of high-fidelity DNA ligation.
Tumbale PP, Jurkiw TJ, Schellenberg MJ, Riccio AA, O'Brien PJ, Williams RS., Free PMC Article | 03/7/2020 |
| Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in APTX-deficient cells have been reported. | Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
Zheng J, Croteau DL, Bohr VA, Akbari M., Free PMC Article | 11/30/2019 |
| These results uncover a DNA-induced fit mechanism regulating APTX active site loop conformations and assembly of a catalytically competent active center. | Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.
Tumbale P, Schellenberg MJ, Mueller GA, Fairweather E, Watson M, Little JN, Krahn J, Waddell I, London RE, Williams RS., Free PMC Article | 03/30/2019 |
| we demonstrated that miR-424 regulated radiosensitivity by directly targeting aprataxin. | miR-424 acts as a tumor radiosensitizer by targeting aprataxin in cervical cancer.
Wang X, Li Q, Jin H, Zou H, Xia W, Dai N, Dai XY, Wang D, Xu CX, Qing Y., Free PMC Article | 03/3/2018 |
| Whole-exome sequencing on a large consanguineous Iranian family with hereditary ataxia and oculomotor apraxia resulted in the identification of a homozygous novel stop-gain mutation in the APTX gene (c.739A>T; p.Lys247*) that segregates with the phenotype. | Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.
Inlora J, Sailani MR, Khodadadi H, Teymurinezhad A, Takahashi S, Bernstein JA, Garshasbi M, Snyder MP., Free PMC Article | 01/6/2018 |
| Mutations in TDP1 and APTX have been linked to Spinocerebellar ataxia with axonal neuropathy (SCAN1) and Ataxia-ocular motor apraxia 1 (AOA1), respectively, while mutations in PNKP are considered to be responsible for Microcephaly with seizures (MCSZ) and Ataxia-ocular motor apraxia 4 (AOA4). | Neurological disorders associated with DNA strand-break processing enzymes.
Jiang B, Glover JN, Weinfeld M., Free PMC Article | 08/12/2017 |
| Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway. | Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.
Garcia-Diaz B, Barca E, Balreira A, Lopez LC, Tadesse S, Krishna S, Naini A, Mariotti C, Castellotti B, Quinzii CM., Free PMC Article | 04/9/2016 |
| Herein, we survey APTX function and the emerging cell biological, structural and biochemical data that has established a molecular foundation for understanding the APTX mediated deadenylation reaction. [review] | Molecular underpinnings of Aprataxin RNA/DNA deadenylase function and dysfunction in neurological disease.
Schellenberg MJ, Tumbale PP, Williams RS., Free PMC Article | 02/6/2016 |
| We describe an ataxia with oculomotor apraxia type 1 patient without a severe phenotype, who has a homozygous deletion of the complete coding region of APTX. | Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
van Minkelen R, Guitart M, Escofet C, Yoon G, Elfferich P, Bolman GM, van der Helm R, van de Graaf R, van den Ouweland AM., Free PMC Article | 10/24/2015 |
| TDP1 and APTX take part in the mitochondrial DNA repair and are apparently being transported from the cell nucleus. (Review) | The role of TDP1 and APTX in mitochondrial DNA repair.
Meagher M, Lightowlers RN., Free PMC Article | 11/8/2014 |
| Structure-function studies of human APTX-RNA-DNA-AMP-Zn complexes define a mechanism for detecting and reversing adenylation at RNA-DNA junctions | Aprataxin resolves adenylated RNA-DNA junctions to maintain genome integrity.
Tumbale P, Williams JS, Schellenberg MJ, Kunkel TA, Williams RS., Free PMC Article | 02/22/2014 |
| Data suggest that mutations affecting protein folding, the active site pocket and the pivot motif underlie aprataxin dysfunction in the neurodegenerative disorder ataxia with oculomotor apraxia 1 (AOA1). | Structure of an aprataxin-DNA complex with insights into AOA1 neurodegenerative disease.
Tumbale P, Appel CD, Kraehenbuehl R, Robertson PD, Williams JS, Krahn J, Ahel I, Williams RS., Free PMC Article | 01/21/2012 |
| The clinical phenotype was homogeneous, irrespectively of the type and location of the APTX mutation, and it was mainly characterized by early-onset cerebellar signs, sensory neuropathy, cognitive decline, and oculomotor deficits. | Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C. | 12/24/2011 |
| The patients with early onset ataxia with ocular motor apraxia and hypoalbuminaemia homozygous for the c.689_690insT mutation(APTX) show a more severe phenotype than those with a p.Pro206Leu or p.Val263Gly mutation. | Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.
Yokoseki A, Ishihara T, Koyama A, Shiga A, Yamada M, Suzuki C, Sekijima Y, Maruta K, Tsuchiya M, Date H, Sato T, Tada M, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O. | 07/23/2011 |
| Aprataxin is required for the normal repair rate of DNA single-strand breaks induced by genotoxic agents. | A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents.
Crimella C, Cantoni O, Guidarelli A, Vantaggiato C, Martinuzzi A, Fiorani M, Azzolini C, Orso G, Bresolin N, Bassi MT. | 07/23/2011 |
| Aprataxin localizes to mitochondria and preserves mitochondrial function. | Aprataxin localizes to mitochondria and preserves mitochondrial function.
Sykora P, Croteau DL, Bohr VA, Wilson DM 3rd., Free PMC Article | 07/16/2011 |
| Loss of HNT3 in rad27Delta cells, which are deficient in long-patch base excision repair (LP-BER), resulted in synergistic sensitivity to H(2)O(2) and methylmethane sulfonate. | Genetic interactions between HNT3/Aprataxin and RAD27/FEN1 suggest parallel pathways for 5' end processing during base excision repair.
Daley JM, Wilson TE, Ramotar D., Free PMC Article | 11/6/2010 |
| searched for aprataxin mutations in Greek patients with sporadic cerebellar ataxia where GAA expansion in frataxin gene has been excluded; no detectable point mutation or deletion was found in the aprataxin gene of all the patients | Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.
Daiou C, Christodoulou K, Xiromerisiou G, Panas M, Dardiotis E, Kladi A, Speletas M, Ntaios G, Papadimitriou A, Germenis A, Hadjigeorgiou GM. | 08/23/2010 |
| High aprataxin levels are associated with low irinotecan response in colorectal cancer. | Aprataxin tumor levels predict response of colorectal cancer patients to irinotecan-based treatment.
Dopeso H, Mateo-Lozano S, Elez E, Landolfi S, Ramos Pascual FJ, Hernández-Losa J, Mazzolini R, Rodrigues P, Bazzocco S, Carreras MJ, Espín E, Armengol M, Wilson AJ, Mariadason JM, Ramon Y Cajal S, Tabernero J, Schwartz S Jr, Arango D. | 08/16/2010 |
| Data demonstrate the presence of elevated levels of oxidative DNA damage in AOA1 cells coupled with reduced base excision and gap filling repair efficiencies indicative of a synergy between aprataxin, PARP-1, APE-1 and OGG1 in the DNA damage response. | Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage.
Harris JL, Jakob B, Taucher-Scholz G, Dianov GL, Becherel OJ, Lavin MF. | 03/1/2010 |
| Data show that the RASGRP1/APTX gene expression ratio was higher in the responder while the AKAP13 expression was higher in the non-responders. | Phase II trial and prediction of response of single agent tipifarnib in patients with relapsed/refractory mantle cell lymphoma: a Groupe d'Etude des Lymphomes de l'Adulte trial.
Rolland D, Ribrag V, Haioun C, Ghesquieres H, Jardin F, Bouabdallah R, Franchi P, Briere J, De Kerviler E, Chassagne-Clement C, Raponi M, Houlgatte R, Jais JP, Thieblemont C. | 02/8/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes.
Luedeke M, Linnert CM, Hofer MD, Surowy HM, Rinckleb AE, Hoegel J, Kuefer R, Rubin MA, Vogel W, Maier C. | 12/2/2009 |