Detalhe da pesquisa
1.
Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.
Nucleic Acids Res
; 51(18): 9716-9732, 2023 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592734
2.
Structural insight and characterization of human Twinkle helicase in mitochondrial disease.
Proc Natl Acad Sci U S A
; 119(32): e2207459119, 2022 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35914129
3.
Method for the structural analysis of Twinkle mitochondrial DNA helicase by cryo-EM.
Methods
; 205: 263-270, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779765
4.
Polymerase γ efficiently replicates through many natural template barriers but stalls at the HSP1 quadruplex.
J Biol Chem
; 295(51): 17802-17815, 2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454015
5.
Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase.
J Biol Chem
; 295(17): 5564-5576, 2020 04 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32213598
6.
Single-molecule DREEM imaging reveals DNA wrapping around human mitochondrial single-stranded DNA binding protein.
Nucleic Acids Res
; 46(21): 11287-11302, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30256971
7.
Complementation of aprataxin deficiency by base excision repair enzymes in mitochondrial extracts.
Nucleic Acids Res
; 45(17): 10079-10088, 2017 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973450
8.
Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.
J Biol Chem
; 292(10): 4198-4209, 2017 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28154168
9.
DNA2 resolves expanding flap in mitochondrial base excision repair.
Mol Cell
; 32(4): 457-8, 2008 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-19026774
10.
Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
Hum Mol Genet
; 20(15): 3052-66, 2011 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21555342
11.
Mitochondrial DNA Enrichment for Sensitive Next-Generation Sequencing.
Methods Mol Biol
; 2615: 427-441, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36807807
12.
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.
J Biol Chem
; 285(39): 29690-702, 2010 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20659899
13.
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
Methods
; 51(4): 379-84, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20176107
14.
Human DNA polymerase theta possesses 5'-dRP lyase activity and functions in single-nucleotide base excision repair in vitro.
Nucleic Acids Res
; 37(6): 1868-77, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19188258
15.
Using Atomic Force Microscopy to Study the Real Time Dynamics of DNA Unwinding by Mitochondrial Twinkle Helicase.
Bio Protoc
; 11(17): e4139, 2021 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34604445
16.
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
Genome Biol
; 21(1): 248, 2020 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32943091
17.
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.
Nat Struct Mol Biol
; 11(8): 770-6, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15258572
18.
Preparation of human mitochondrial single-stranded DNA-binding protein.
Methods Mol Biol
; 554: 73-85, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19513668
19.
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
PLoS One
; 14(9): e0221829, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31479473
20.
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Arch Neurol
; 65(1): 125-31, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18195150