Detalhe da pesquisa
1.
Non-coding 7S RNA inhibits transcription via mitochondrial RNA polymerase dimerization.
Cell
; 185(13): 2309-2323.e24, 2022 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35662414
2.
Small-molecule inhibitors of human mitochondrial DNA transcription.
Nature
; 588(7839): 712-716, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33328633
3.
Ribonucleotides embedded in template DNA impair mitochondrial RNA polymerase progression.
Nucleic Acids Res
; 50(2): 989-999, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35018464
4.
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
Nucleic Acids Res
; 49(9): 5230-5248, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33956154
5.
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Hum Mol Genet
; 28(7): 1090-1099, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30496414
6.
Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.
Hum Mol Genet
; 27(10): 1743-1753, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518248
7.
A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL.
Nucleic Acids Res
; 46(18): 9471-9483, 2018 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30102370
8.
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Hum Mol Genet
; 26(13): 2515-2525, 2017 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28430993
9.
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'.
Nucleic Acids Res
; 49(18): 10803, 2021 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34520541
10.
Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase.
Hum Mol Genet
; 29(3): 528, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31942986
11.
A Lys-Trp cation-π interaction mediates the dimerization and function of the chloride intracellular channel protein 1 transmembrane domain.
Biochemistry
; 53(1): 57-67, 2014 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24328417
12.
A conserved cationic motif enhances membrane binding and insertion of the chloride intracellular channel protein 1 transmembrane domain.
Eur Biophys J
; 43(8-9): 405-14, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24925575
13.
Membrane mimetics induce helix formation and oligomerization of the chloride intracellular channel protein 1 transmembrane domain.
Biochemistry
; 52(16): 2739-49, 2013 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23547926
14.
The disease-causing mutation p.F907I reveals a novel pathogenic mechanism for POLγ-related diseases.
Biochim Biophys Acta Mol Basis Dis
; 1869(7): 166786, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37302426
15.
Disease causing mutation (P178L) in mitochondrial transcription factor A results in impaired mitochondrial transcription initiation.
Biochim Biophys Acta Mol Basis Dis
; 1868(10): 166467, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35716868
16.
Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy.
Neuromuscul Disord
; 31(4): 348-358, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579567
17.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nat Commun
; 12(1): 1135, 2021 02 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602924
18.
TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease.
Genes (Basel)
; 11(4)2020 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32283748
19.
Democratizing water monitoring: Implementation of a community-based qPCR monitoring program for recreational water hazards.
PLoS One
; 15(5): e0229701, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32401786
20.
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO.
Neurol Genet
; 6(1): e391, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32042919