Detalhe da pesquisa
1.
Mitochondrial diseases: the contribution of organelle stress responses to pathology.
Nat Rev Mol Cell Biol
; 19(2): 77-92, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28792006
2.
Mitochondrial protein synthesis quality control.
Hum Mol Genet
; 33(R1): R53-R60, 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38280230
3.
Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases.
Nucleic Acids Res
; 51(14): 7563-7579, 2023 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928678
4.
Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis.
Hum Mol Genet
; 31(8): 1230-1241, 2022 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718584
5.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
6.
A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement.
Hum Mol Genet
; 28(4): 639-649, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358850
7.
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity.
Neurobiol Dis
; 124: 14-28, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30389403
8.
Tissue-specific modulation of mitochondrial DNA segregation by a defect in mitochondrial division.
Hum Mol Genet
; 25(4): 706-14, 2016 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681804
9.
No recombination of mtDNA after heteroplasmy for 50 generations in the mouse maternal germline.
Nucleic Acids Res
; 42(2): 1111-6, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24163253
10.
Why translation counts for mitochondria - retrograde signalling links mitochondrial protein synthesis to mitochondrial biogenesis and cell proliferation.
J Cell Sci
; 126(Pt 19): 4331-8, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24013545
11.
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
J Med Genet
; 50(3): 151-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315540
12.
Gimap3 regulates tissue-specific mitochondrial DNA segregation.
PLoS Genet
; 6(10): e1001161, 2010 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976251
13.
Nuclear genetic control of mitochondrial DNA segregation.
Nat Genet
; 33(2): 183-6, 2003 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-12539044
14.
Sucrose Gradient Analysis of Human Mitochondrial Ribosomes and RNA.
Methods Mol Biol
; 2661: 101-117, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166634
15.
Progressive mitochondrial dysfunction in cerebellar synaptosomes of cystatin B-deficient mice.
Front Mol Neurosci
; 16: 1175851, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37251643
16.
Mitochondrial dysfunction reactivates α-fetoprotein expression that drives copper-dependent immunosuppression in mitochondrial disease models.
J Clin Invest
; 133(1)2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36301669
17.
Nonstop mRNAs generate a ground state of mitochondrial gene expression noise.
Sci Adv
; 8(46): eabq5234, 2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399564
18.
Reactive oxygen species and the segregation of mtDNA sequence variants.
Nat Genet
; 39(5): 571-2; author reply 572, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17460678
19.
Mechanism of membrane-tethered mitochondrial protein synthesis.
Science
; 371(6531): 846-849, 2021 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33602856
20.
Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice.
Front Mol Neurosci
; 13: 570640, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33281550