Detalhe da pesquisa
1.
Super-resolution microscopies, technological breakthrough to decipher mitochondrial structure and dynamic.
Semin Cell Dev Biol
; 159-160: 38-51, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38310707
2.
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Brain
; 147(1): 91-99, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804319
3.
Stochastic Optical Reconstruction Microscopy Imaging of Multiple System Atrophy Inclusions Suggests Stepwise α-Synuclein Aggregation.
Mov Disord
; 39(4): 723-728, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357858
4.
Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells.
Brain
; 146(9): 3624-3633, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37410912
5.
Protective role of the mitochondrial fusion protein OPA1 in hypertension.
FASEB J
; 35(7): e21678, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34133045
6.
Lipidomics Reveals Triacylglycerol Accumulation Due to Impaired Fatty Acid Flux in Opa1-Disrupted Fibroblasts.
J Proteome Res
; 18(7): 2779-2790, 2019 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199663
7.
CLUH couples mitochondrial distribution to the energetic and metabolic status.
J Cell Sci
; 130(11): 1940-1951, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28424233
8.
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.
Biochim Biophys Acta Mol Basis Dis
; 1864(5 Pt A): 1596-1608, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29454073
9.
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
Brain
; 140(10): 2586-2596, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969390
10.
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.
J Cell Mol Med
; 21(10): 2284-2297, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28378518
11.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Am J Hum Genet
; 95(6): 637-48, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25466283
12.
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 284-291, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27815040
13.
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
Brain
; 139(11): 2864-2876, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633772
14.
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Neurobiol Dis
; 90: 20-6, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26311407
15.
Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.
J Peripher Nerv Syst
; 21(4): 365-369, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27706887
16.
Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.
Hum Mutat
; 36(1): 20-5, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25243597
17.
Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells.
J Biol Chem
; 288(51): 36662-75, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-24178296
18.
Reply: The expanding neurological phenotype of DNM1L-related disorders.
Brain
; 141(4): e29, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29529130
19.
Mitochondrial F0F1-ATP synthase governs the induction of mitochondrial fission.
iScience
; 27(5): 109808, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38741710
20.
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS.
Biochim Biophys Acta
; 1822(6): 1019-29, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22306605