Detalhe da pesquisa
1.
Mitochondrial dysfunction and calcium dysregulation in COQ8A-ataxia Purkinje neurons are rescued by CoQ10 treatment.
Brain
; 146(9): 3836-3850, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36960552
2.
Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.
Mol Cell
; 63(4): 608-620, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27499294
3.
Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.
Hum Mol Genet
; 28(8): 1274-1285, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30544254
4.
Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy in a Novel Model of Friedreich Ataxia.
Mol Ther
; 26(8): 1940-1952, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29853274
5.
High Levels of Frataxin Overexpression Lead to Mitochondrial and Cardiac Toxicity in Mouse Models.
Mol Ther Methods Clin Dev
; 19: 120-138, 2020 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33209958
6.
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
BMC Neurol
; 9: 46, 2009 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19703283
7.
Iron regulatory protein 1 sustains mitochondrial iron loading and function in frataxin deficiency.
Cell Metab
; 21(2): 311-323, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25651183
8.
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.
Nat Med
; 20(5): 542-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705334
9.
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia.
Dis Model Mech
; 6(3): 608-21, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23136396
10.
Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia.
Dis Model Mech
; 5(6): 860-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22736457
11.
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.
PLoS One
; 6(1): e16199, 2011 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21298097
12.
The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
PLoS One
; 4(7): e6379, 2009 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-19629184
13.
Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues.
Hum Mol Genet
; 16(22): 2651-8, 2007 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17597094
14.
Friedreich ataxia: the oxidative stress paradox.
Hum Mol Genet
; 14(4): 463-74, 2005 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15615771
15.
Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.
Hum Mol Genet
; 14(24): 3787-99, 2005 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16239244