Found: 45
Select item for more details and to access through your institution.
Redox Homeostasis in Muscular Dystrophies.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 6, p. 1364, doi. 10.3390/cells10061364
- By:
- Publication type:
- Article
Molecular and histological traits of reduced lysosomal acid lipase activity in the fatty liver.
- Published in:
- Cell Death & Disease, 2021, v. 12, n. 12, p. 1, doi. 10.1038/s41419-021-04382-4
- By:
- Publication type:
- Article
Correction: Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Frataxin deficiency induces lipid accumulation and affects thermogenesis in brown adipose tissue.
- Published in:
- Cell Death & Disease, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41419-020-2253-2
- By:
- Publication type:
- Article
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature.
- Published in:
- Neurogenetics, 2024, v. 25, n. 2, p. 51, doi. 10.1007/s10048-024-00749-9
- By:
- Publication type:
- Article
Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 279, doi. 10.1007/s10048-020-00620-7
- By:
- Publication type:
- Article
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
- Published in:
- Neurogenetics, 2012, v. 13, n. 4, p. 375, doi. 10.1007/s10048-012-0343-8
- By:
- Publication type:
- Article
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2
- By:
- Publication type:
- Article
The Effects of Exercise Training on Cardiopulmonary Exercise Testing and Cardiac Biomarkers in Adult Patients with Hypoplastic Left Heart Syndrome and Fontan Circulation.
- Published in:
- Journal of Cardiovascular Development & Disease (JCDD), 2022, v. 9, n. 6, p. 171, doi. 10.3390/jcdd9060171
- By:
- Publication type:
- Article
Protein glutathionylation in human central nervous system: Potential role in redox regulation of neuronal defense against free radicals.
- Published in:
- Journal of Neuroscience Research, 2006, v. 83, n. 2, p. 256, doi. 10.1002/jnr.20729
- By:
- Publication type:
- Article
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7402, doi. 10.3390/ijms21197402
- By:
- Publication type:
- Article
The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 916, doi. 10.3390/ijms21030916
- By:
- Publication type:
- Article
Targeting NRF2 for the Treatment of Friedreich's Ataxia: A Comparison among Drugs.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5211, doi. 10.3390/ijms20205211
- By:
- Publication type:
- Article
Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia.
- Published in:
- International Journal of Molecular Sciences, 2017, v. 18, n. 10, p. 2173, doi. 10.3390/ijms18102173
- By:
- Publication type:
- Article
Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis.
- Published in:
- International Journal of Molecular Sciences, 2014, v. 15, n. 4, p. 5789, doi. 10.3390/ijms15045789
- By:
- Publication type:
- Article
Protein Glutathionylation in Cardiovascular Diseases.
- Published in:
- International Journal of Molecular Sciences, 2013, v. 14, n. 10, p. 20845, doi. 10.3390/ijms141020845
- By:
- Publication type:
- Article
Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons.
- Published in:
- International Journal of Molecular Sciences, 2013, v. 14, n. 4, p. 7853, doi. 10.3390/ijms14047853
- By:
- Publication type:
- Article
Emodin Prevents Intrahepatic Fat Accumulation, Inflammation and Redox Status Imbalance During Diet-Induced Hepatosteatosis in Rats.
- Published in:
- International Journal of Molecular Sciences, 2012, v. 13, n. 2, p. 2276, doi. 10.3390/ijms13022276
- By:
- Publication type:
- Article
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
- Published in:
- Genes, 2024, v. 15, n. 4, p. 508, doi. 10.3390/genes15040508
- By:
- Publication type:
- Article
Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells.
- Published in:
- Frontiers in Cellular Neuroscience, 2019, p. 1, doi. 10.3389/fncel.2019.00356
- By:
- Publication type:
- Article
Sex Differences in Autism Spectrum Disorder: Diagnostic, Neurobiological, and Behavioral Features.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.889636
- By:
- Publication type:
- Article
N-Acetylcysteine Mitigates Social Dysfunction in a Rat Model of Autism Normalizing Glutathione Imbalance and the Altered Expression of Genes Related to Synaptic Function in Specific Brain Areas.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.851679
- By:
- Publication type:
- Article
Collapsing glomerulopathy associated with inherited mitochondrial injury.
- Published in:
- 2008
- By:
- Publication type:
- Case Study
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 11, p. 1551, doi. 10.3390/biom10111551
- By:
- Publication type:
- Article
Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 5, p. 702, doi. 10.3390/biom10050702
- By:
- Publication type:
- Article
The ferroptosis inducer RSL3 triggers interictal epileptiform activity in mice cortical neurons.
- Published in:
- Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1213732
- By:
- Publication type:
- Article
Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich's Ataxia: Clues of an "Out-Brain Origin" of the Disease From a Family Study.
- Published in:
- Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.638810
- By:
- Publication type:
- Article
Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1173, doi. 10.1002/jimd.12287
- By:
- Publication type:
- Article
Glutathione metabolism in cobalamin deficiency type C (cblC).
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 125, doi. 10.1007/s10545-013-9605-3
- By:
- Publication type:
- Article
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 43, doi. 10.1007/s10545-012-9487-9
- By:
- Publication type:
- Article
Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease.
- Published in:
- Journal of Gastroenterology & Hepatology, 2008, v. 23, n. 8pt2, p. e457, doi. 10.1111/j.1440-1746.2007.05070.x
- By:
- Publication type:
- Article
Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions.
- Published in:
- Cytoskeleton, 2010, v. 67, n. 2, p. 81, doi. 10.1002/cm.20425
- By:
- Publication type:
- Article
All glutathione forms are depleted in blood of obese and type 1 diabetic children.
- Published in:
- Pediatric Diabetes, 2012, v. 13, n. 3, p. 272, doi. 10.1111/j.1399-5448.2011.00806.x
- By:
- Publication type:
- Article
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
- Published in:
- 2016
- By:
- Publication type:
- journal article
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 3, p. 862, doi. 10.1093/brain/awl389
- By:
- Publication type:
- Article
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 5, p. 472, doi. 10.1111/j.1469-8749.2011.04151.x
- By:
- Publication type:
- Article
Myosin as a potential redox-sensor: an in vitro study.
- Published in:
- Journal of Muscle Research & Cell Motility, 2008, v. 29, n. 2-5, p. 119
- By:
- Publication type:
- Article
Systemic activation of Nrf2 pathway in Parkinson's disease.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 14, p. 2781, doi. 10.1093/hmg/ddx173
- By:
- Publication type:
- Article
Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4288, doi. 10.1093/hmg/ddw260
- By:
- Publication type:
- Article
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3248, doi. 10.1093/hmg/ddv078
- By:
- Publication type:
- Article
Dysfunctional hepatic lysosomal acid lipase decreases fat disposal and promotes NAFLD progression.
- Published in:
- Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 55
- By:
- Publication type:
- Article
Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts.
- Published in:
- Antioxidants, 2022, v. 11, n. 11, p. 2125, doi. 10.3390/antiox11112125
- By:
- Publication type:
- Article
Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis.
- Published in:
- Antioxidants, 2021, v. 10, n. 8, p. 1267, doi. 10.3390/antiox10081267
- By:
- Publication type:
- Article
Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156113
- By:
- Publication type:
- Article