| Lentiviral Gene Therapy for Artemis-Deficient SCID. | Lentiviral Gene Therapy for Artemis-Deficient SCID.
Cowan MJ, Yu J, Facchino J, Fraser-Browne C, Sanford U, Kawahara M, Dara J, Long-Boyle J, Oh J, Chan W, Chag S, Broderick L, Chellapandian D, Decaluwe H, Golski C, Hu D, Kuo CY, Miller HK, Petrovic A, Currier R, Hilton JF, Punwani D, Dvorak CC, Malech HL, McIvor RS, Puck JM., Free PMC Article | 12/31/2022 |
| Dynamics of the Artemis and DNA-PKcs Complex in the Repair of Double-Strand Breaks. | Dynamics of the Artemis and DNA-PKcs Complex in the Repair of Double-Strand Breaks.
Watanabe G, Lieber MR., Free PMC Article | 12/3/2022 |
| Structural analysis of the basal state of the Artemis:DNA-PKcs complex. | Structural analysis of the basal state of the Artemis:DNA-PKcs complex.
Watanabe G, Lieber MR, Williams DR., Free PMC Article | 07/30/2022 |
| Staring at the Naked Goddess: Unraveling the Structure and Reactivity of Artemis Endonuclease Interacting with a DNA Double Strand. | Staring at the Naked Goddess: Unraveling the Structure and Reactivity of Artemis Endonuclease Interacting with a DNA Double Strand.
Hognon C, Monari A., Free PMC Article | 07/17/2021 |
| Structural analysis of the catalytic domain of Artemis endonuclease/SNM1C reveals distinct structural features. | Structural analysis of the catalytic domain of Artemis endonuclease/SNM1C reveals distinct structural features.
Karim MF, Liu S, Laciak AR, Volk L, Koszelak-Rosenblum M, Lieber MR, Wu M, Curtis R, Huang NN, Carr G, Zhu G., Free PMC Article | 01/23/2021 |
| Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency. | Unusual phenotype in patients with a hypomorphic mutation in the DCLRE1C gene: IgG hypergammaglobulinemia with IgA and IgE deficiency.
Nahum A, Somech R, Shubinsky G, Levy J, Broides A. | 10/24/2020 |
| study presents one of three affected siblings who was diagnosed with DCLRE1C-deficient combined immunodeficiencies | Intrauterine detection of DCLRE1C (Artemis) mutation by restriction fragment length polymorphism.
Karaselek MA, Kapaklı H, Keleş S, Güner ŞN, Çelik ŞÇ, Kurar E, Reisli İ. | 06/6/2020 |
| The results suggest that TDP1 and Artemis perform different functions in the repair of terminally blocked double-stranded breaks (DSBs) by the classical nonhomologous end joining pathway, and that whereas an Artemis deficiency prevents end joining of some DSBs, a TDP1 deficiency tends to promote DSB misjoining. | TDP1 suppresses mis-joining of radiomimetic DNA double-strand breaks and cooperates with Artemis to promote optimal nonhomologous end joining.
Kawale AS, Akopiants K, Valerie K, Ruis B, Hendrickson EA, Huang SN, Pommier Y, Povirk LF., Free PMC Article | 06/29/2019 |
| Study provides evidence that Replication forks can break quickly in S-phase upon DNA replication stress induction by an endonucleolytic mechanism independent of MUS81. Two nucleases ARTEMIS and XPF-ERCC1 are responsible for this Rapid-Replication Fork Breakage (RRFB) which takes place during S and G2 phases of the cell cycle. | DNA replication stress triggers rapid DNA replication fork breakage by Artemis and XPF.
Bétous R, Goullet de Rugy T, Pelegrini AL, Queille S, de Villartay JP, Hoffmann JS., Free PMC Article | 01/19/2019 |
| Data suggest that stimulation of Artemis nuclease/DCLRE1C activity by XRCC4-DNA ligase IV hetero-complex and efficiency of blunt-end ligation are determined by structural configurations at the DNA ends. (XRCC4 = X-ray repair cross complementing 4) | Effects of DNA end configuration on XRCC4-DNA ligase IV and its stimulation of Artemis activity.
Gerodimos CA, Chang HHY, Watanabe G, Lieber MR., Free PMC Article | 09/16/2017 |
| An N-terminal fragment comprising the catalytic domain can interact both with itself and with a C-terminal fragment. Amino acid exchanges N456A+S457A+E458Q in the C terminus of full-length SCIDA resulted in unmasking of the N terminus and in increased SCIDA activity in cellular V(D)J recombination assays. | Autoinhibition of the Nuclease ARTEMIS Is Mediated by a Physical Interaction between Its Catalytic and C-terminal Domains.
Niewolik D, Peter I, Butscher C, Schwarz K., Free PMC Article | 06/24/2017 |
| Data demonstrate that DCLRE1C mutations can cause a phenotype presenting as only antibody deficiency. | DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency.
Volk T, Pannicke U, Reisli I, Bulashevska A, Ritter J, Björkman A, Schäffer AA, Fliegauf M, Sayar EH, Salzer U, Fisch P, Pfeifer D, Di Virgilio M, Cao H, Yang F, Zimmermann K, Keles S, Caliskaner Z, Güner SÜ, Schindler D, Hammarström L, Rizzi M, Hummel M, Pan-Hammarström Q, Schwarz K, Grimbacher B., Free PMC Article | 09/24/2016 |
| DCLRE1C and NCF1 mutations have been found by whole-genome sequencing to cause primary immunodeficiency in unrelated patients. | Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
Mousallem T, Urban TJ, McSweeney KM, Kleinstein SE, Zhu M, Adeli M, Parrott RE, Roberts JL, Krueger B, Buckley RH, Goldstein DB., Free PMC Article | 10/24/2015 |
| the nature and location of mutations correlate with the clinical phenotype of severe combined immunodeficiency | Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
Felgentreff K, Lee YN, Frugoni F, Du L, van der Burg M, Giliani S, Tezcan I, Reisli I, Mejstrikova E, de Villartay JP, Sleckman BP, Manis J, Notarangelo LD., Free PMC Article | 10/10/2015 |
| uncovered a nuclease, Artemis, as a PTIP-binding protein | PTIP associates with Artemis to dictate DNA repair pathway choice.
Wang J, Aroumougame A, Lobrich M, Li Y, Chen D, Chen J, Gong Z., Free PMC Article | 02/14/2015 |
| the 5'-exonuclease is intrinsic to ARTEMIS, making it relevant to the role of ARTEMIS in nonhomologous DNA end joining | Evidence that the DNA endonuclease ARTEMIS also has intrinsic 5'-exonuclease activity.
Li S, Chang HH, Niewolik D, Hedrick MP, Pinkerton AB, Hassig CA, Schwarz K, Lieber MR., Free PMC Article | 05/17/2014 |
| DNA ligase IV and Artemis act cooperatively to promote nonhomologous end-joining | DNA ligase IV and artemis act cooperatively to suppress homologous recombination in human cells: implications for DNA double-strand break repair.
Kurosawa A, Saito S, So S, Hashimoto M, Iwabuchi K, Watabe H, Adachi N., Free PMC Article | 03/22/2014 |
| 2 siblings are described with combined immunodeficiency (CID) and immunodysregulation caused by compound heterozygous Artemis mutations. | The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.
Lee PP, Woodbine L, Gilmour KC, Bibi S, Cale CM, Amrolia PJ, Veys PA, Davies EG, Jeggo PA, Jones A. | 01/4/2014 |
| Artemis levels significantly influence radiation toxicity in human cells | Increased Artemis levels confer radioresistance to both high and low LET radiation exposures.
Sridharan DM, Whalen MK, Almendrala D, Cucinotta FA, Kawahara M, Yannone SM, Pluth JM., Free PMC Article | 08/31/2013 |
| Our findings indicate a novel function of Artemis as a molecular switch that converts stalled replication forks harboring single-stranded gap DNA lesions into double-strand breaks, thereby activating the ATM signaling pathway | Artemis-dependent DNA double-strand break formation at stalled replication forks.
Unno J, Takagi M, Piao J, Sugimoto M, Honda F, Maeda D, Masutani M, Kiyono T, Watanabe F, Morio T, Teraoka H, Mizutani S., Free PMC Article | 07/20/2013 |
| Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining. | Structural basis of DNA ligase IV-Artemis interaction in nonhomologous end-joining.
De Ioannes P, Malu S, Cortes P, Aggarwal AK., Free PMC Article | 06/8/2013 |
| these results suggest that Artemis functions as a positive regulator of AMPK signaling by stabilizing the LKB1-AMPK complex. | The nuclear protein Artemis promotes AMPK activation by stabilizing the LKB1-AMPK complex.
Nakagawa K, Uehata Y, Natsuizaka M, Kohara T, Darmanin S, Asaka M, Takeda H, Kobayashi M. | 03/30/2013 |
| study identified a new SCID mutation in a consanguineous Israeli Arab family; sequencing identified an 8 bp insertion in exon 14 (1306ins8) of DCLRE1C in all affected patients; this causes an alteration in amino acid 330 of the protein from cysteine to a stop codon (p.C330X) | Severe combined immunodeficiency (SCID): from the detection of a new mutation to preimplantation genetic diagnosis.
Tomashov-Matar R, Biran G, Lagovsky I, Kotler N, Stein A, Fisch B, Sapir O, Shohat M., Free PMC Article | 01/26/2013 |
| Results show that during S-phase Artemis but not ATM is dispensable for homologous recombination of radiation-induced double-strand breaks. | Radiation-induced double-strand breaks require ATM but not Artemis for homologous recombination during S-phase.
Köcher S, Rieckmann T, Rohaly G, Mansour WY, Dikomey E, Dornreiter I, Dahm-Daphi J., Free PMC Article | 12/22/2012 |
| Regulation of p27 by Artemis and DDB2 is important for cell cycle progression in normally proliferating cells. | Artemis interacts with the Cul4A-DDB1DDB2 ubiquitin E3 ligase and regulates degradation of the CDK inhibitor p27.
Yan Y, Zhang X, Legerski RJ., Free PMC Article | 09/1/2012 |