Detalhe da pesquisa
1.
TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
EMBO J
; 40(10): e103563, 2021 05 17.
Artigo
Inglês
| MEDLINE | ID: mdl-33932238
2.
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Stem Cell Res
; 77: 103406, 2024 Mar 24.
Artigo
Inglês
| MEDLINE | ID: mdl-38552355
3.
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Cell Rep Med
; 5(2): 101383, 2024 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-38272025
4.
Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12.
Stem Cell Res
; 72: 103197, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37689041
5.
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.
Cell Rep
; 40(3): 111124, 2022 07 19.
Artigo
Inglês
| MEDLINE | ID: mdl-35858578
6.
Current and New Next-Generation Sequencing Approaches to Study Mitochondrial DNA.
J Mol Diagn
; 23(6): 732-741, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33781964
7.
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives.
Front Neurol
; 12: 648916, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34168607
8.
Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson's syndrome.
Stem Cell Res
; 50: 102151, 2021 Jan 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33434818
9.
The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.
Stem Cell Reports
; 16(8): 1953-1967, 2021 08 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34329598
10.
Generation of a human iPSC line, FINCBi001-A, carrying a homoplasmic m.G3460A mutation in MT-ND1 associated with Leber's Hereditary optic Neuropathy (LHON).
Stem Cell Res
; 48: 101939, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32771908
11.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
J Clin Invest
; 130(1): 108-125, 2020 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31550240
12.
[Bacteria engineered to produce L-arginine potentiate cancer immunotherapy]. / Des bactéries modifiées pour produire la L-arginine potentialisent l'immunothérapie des cancers.
Med Sci (Paris)
; 39(10): 793-795, 2023 10.
Artigo
Francês
| MEDLINE | ID: mdl-37943143