Detalhe da pesquisa
1.
Exogenous peptides are able to penetrate human cell and mitochondrial membranes, stabilize mitochondrial tRNA structures, and rescue severe mitochondrial defects.
FASEB J
; 34(6): 7675-7686, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32304340
2.
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.
Hum Mol Genet
; 25(5): 903-15, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721932
3.
Targeting estrogen receptor ß as preventive therapeutic strategy for Leber's hereditary optic neuropathy.
Hum Mol Genet
; 24(24): 6921-31, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26410888
4.
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
Hum Mol Genet
; 21(1): 85-100, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21945886
5.
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.
Brain
; 134(Pt 1): 220-34, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20943885
6.
Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Sci Rep
; 9(1): 5108, 2019 03 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30911037
7.
Nonischemic left ventricular scar and cardiac sudden death in the young.
Hum Pathol
; 58: 78-89, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569295
8.
Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure.
Cardiovasc Pathol
; 25(2): 103-12, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26764143
9.
The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof.
Front Genet
; 6: 113, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25852750
10.
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.
EMBO Mol Med
; 6(2): 169-82, 2014 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24413190
11.
Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features.
Hum Pathol
; 44(7): 1262-70, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23332932
12.
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number.
Hum Pathol
; 44(9): 1867-76, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664543
13.
Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations.
Arch Neurol
; 67(9): 1144-6, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20837862