Detalhe da pesquisa
1.
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
2.
TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study.
Mov Disord
; 37(9): 1938-1943, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35792653
3.
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
4.
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
5.
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
Hum Mol Genet
; 22(12): 2411-22, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446635
6.
Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia.
Hum Mol Genet
; 20(6): 1212-23, 2011 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21228000
7.
Sequestration of the Abeta peptide prevents toxicity and promotes degradation in vivo.
PLoS Biol
; 8(3): e1000334, 2010 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20305716
8.
Stabilization of neurotoxic Alzheimer amyloid-beta oligomers by protein engineering.
Proc Natl Acad Sci U S A
; 107(35): 15595-600, 2010 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-20713699
9.
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
10.
Autoproteolysis coupled to protein folding in the SEA domain of the membrane-bound MUC1 mucin.
Nat Struct Mol Biol
; 13(1): 71-6, 2006 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-16369486
11.
Highly efficient incorporation of the fluorescent nucleotide analogs tC and tCO by Klenow fragment.
Nucleic Acids Res
; 37(12): 3924-33, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19401439
12.
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
13.
The mitochondrial single-stranded DNA binding protein is essential for initiation of mtDNA replication.
Sci Adv
; 7(27)2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34215584
14.
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
15.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
J Clin Invest
; 130(1): 108-125, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31550240
16.
Protein autoproteolysis: conformational strain linked to the rate of peptide cleavage by the pH dependence of the N --> O acyl shift reaction.
J Am Chem Soc
; 131(27): 9475-7, 2009 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19534521
17.
Recombinant amyloid beta-peptide production by coexpression with an affibody ligand.
BMC Biotechnol
; 8: 82, 2008 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-18973685
18.
Selective mitochondrial DNA degradation following double-strand breaks.
PLoS One
; 12(4): e0176795, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28453550
19.
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.
Nat Commun
; 6: 7303, 2015 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26095671
20.
Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies.
Nat Commun
; 6: 8808, 2015 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26554610