| MGME1 associates with poor prognosis and is vital for cell proliferation in lower-grade glioma. | MGME1 associates with poor prognosis and is vital for cell proliferation in lower-grade glioma.
Xiao F, Zeng J, Wang H, Zhu H, Guo Y, Zhang Z, Xiao Y, Hu G, Huang K, Yang Q, Guo H., Free PMC Article | 05/30/2023 |
| Besides the conserved two-cation-assisted catalytic mechanism, structural analysis of HsMGME1 and comparison with homologous proteins also clarified substrate binding and cleavage directionalities of the DNA double-strand break repair complexes RecBCD and AddAB. | Structural insights into DNA degradation by human mitochondrial nuclease MGME1.
Yang C, Wu R, Liu H, Chen Y, Gao Y, Chen X, Li Y, Ma J, Li J, Gan J., Free PMC Article | 08/3/2019 |
| MGME1 is part of a termination complex acting at the end of the D-loop region where it modulates mtDNA replication and H-strand transcription termination | Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.
Matic S, Jiang M, Nicholls TJ, Uhler JP, Dirksen-Schwanenland C, Polosa PL, Simard ML, Li X, Atanassov I, Rackham O, Filipovska A, Stewart JB, Falkenberg M, Larsson NG, Milenkovic D., Free PMC Article | 12/29/2018 |
| A novel frameshift deletion in MGME1 causes early onset cerebellar ataxia. | Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.
Hebbar M, Girisha KM, Srivastava A, Bielas S, Shukla A., Free PMC Article | 12/9/2017 |
| MGME1 processes flaps into ligatable nicks in concert with DNA polymerase gamma during mtDNA replication. | MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication.
Uhler JP, Thörn C, Nicholls TJ, Matic S, Milenkovic D, Gustafsson CM, Falkenberg M., Free PMC Article | 06/10/2017 |
| MGME1-mediated mtDNA processing is essential for faithful mitochondrial genome replication and might be required for intramolecular recombination of mtDNA. | Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
Nicholls TJ, Zsurka G, Peeva V, Schöler S, Szczesny RJ, Cysewski D, Reyes A, Kornblum C, Sciacco M, Moggio M, Dziembowski A, Kunz WS, Minczuk M., Free PMC Article | 10/31/2015 |
| Overexperssion of Ddk1 decreases the levels of 7S DNA, suggesting an important role of the protein in 7S DNA regulation. | Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels.
Szczesny RJ, Hejnowicz MS, Steczkiewicz K, Muszewska A, Borowski LS, Ginalski K, Dziembowski A., Free PMC Article | 05/4/2013 |
| Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. | Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H., Free PMC Article | 03/30/2013 |
| 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 |