Detalhe da pesquisa
1.
Huntington disease affects mitochondrial network dynamics predisposing to pathogenic mtDNA mutations.
Brain
; 2024 Jan 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38195181
2.
Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model.
Hum Mol Genet
; 31(14): 2396-2405, 2022 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179198
3.
Exploring the impact of the PNPLA3 I148M variant on primary human hepatic stellate cells using 3D extracellular matrix models.
J Hepatol
; 80(6): 941-956, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38365182
4.
Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genet Med
; 21(4): 1027, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30228318
5.
Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.
Brain
; 141(8): 2419-2431, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29917054
6.
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genet Med
; 19(11): 1217-1225, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28471437
7.
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.
Brain
; 138(Pt 10): 2834-46, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26122121
8.
Clonal expansion of T cells in abdominal aortic aneurysm: a role for doxycycline as drug of choice?
Int J Mol Sci
; 16(5): 11178-95, 2015 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25993290
9.
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Brain Commun
; 6(3): fcae160, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38756539
10.
Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation.
Biochem Biophys Res Commun
; 441(4): 862-6, 2013 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24211199
11.
Remodelling of the Mitochondrial Bioenergetic Pathways in Human Cultured Fibroblasts with Carbohydrates.
Biology (Basel)
; 12(7)2023 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508431
12.
Prostacyclin mimetics inhibit DRP1-mediated pro-proliferative mitochondrial fragmentation in pulmonary arterial hypertension.
Vascul Pharmacol
; 151: 107194, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37442283
13.
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.
Hum Mol Genet
; 19(24): 4861-70, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20871098
14.
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Hum Mol Genet
; 24(14): 4183, 2015 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26022995
15.
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.
Hum Mol Genet
; 19(24): 4837-47, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858599
16.
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
J Med Genet
; 48(10): 691-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21931170
17.
Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.
J Med Genet
; 48(9): 610-7, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21378381
18.
Exploring metabolism in scleroderma reveals opportunities for pharmacological intervention for therapy in fibrosis.
Front Immunol
; 13: 1004949, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36304460
19.
Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation.
Biochim Biophys Acta
; 1803(8): 931-9, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20434493
20.
Comment on "aneurysmal lesions of patients with abdominal aortic aneurysm contain clonally expanded T cells".
J Immunol
; 193(5): 2041, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25128546