Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA [PDF]
, 2016 Friedreich’s ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is caused by silencing of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis. We
Ho, SL +7 more
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Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy
Annals of Clinical and Translational Neurology, 2020 We previously documented that idebenone treatment in OPA1‐Dominant Optic Atrophy (OPA1‐DOA) led to some degrees of visual improvement in seven patients.
Martina Romagnoli +8 more
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Gene regulation and epigenotype in Friedreich's ataxia [PDF]
, 2008 Friedreich??????s ataxia (FRDA) is known to be provoked by an abnormal GAA-repeat expansion located in the first intron of the FXN gene. As a result of the GAA expansion, patients exhibit low levels of FXN mRNA, leading to FRDA.
Rothe, Nadine, Rothe, Nadine
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Experimental GerontologyHeart failure (HF) remains a global health challenge with limited efficacious therapies, necessitating novel strategies targeting its underlying pathological mechanisms.
Jie Mao +5 more
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Applied Sciences, 2021 Several liquid lipids have been proposed to obtain nanostructured lipid carriers (NLC) with improved efficiency. An attractive strategy is the use of oils that could elicit a synergic effect with the loaded drug. In this work, different percentages (0–4%
Maria Grazia Sarpietro +4 more
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Hypo‐collagenesis in photoaged skin predicts response to anti‐aging cosmeceuticals [PDF]
, 2013 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/98115/1/jocd12037 ...
Chubb, Heather A +5 more
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Metabogenic and Nutriceutical Approaches to Address Energy Dysregulation and Skeletal Muscle Wasting in Duchenne Muscular Dystrophy [PDF]
, 2015 Duchenne Muscular Dystrophy (DMD) is a fatal genetic muscle wasting disease with no current cure. A prominent, yet poorly treated feature of dystrophic muscle is the dysregulation of energy homeostasis which may be associated with intrinsic defects in ...
Cooke, Matthew +4 more
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Cochlear injury and adaptive plasticity of the auditory cortex [PDF]
, 2015 Growing evidence suggests that cochlear stressors as noise exposure and aging can induce homeostatic/maladaptive changes in the central auditory system from the brainstem to the cortex.
Fetoni, Ar +3 more
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NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels.
PLoS ONE, 2011 Short-chain quinones are described as potent antioxidants and in the case of idebenone have already been under clinical investigation for the treatment of neuromuscular disorders.
Roman H Haefeli +7 more
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Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies [PDF]
, 2019 Duchenne and Becker muscular dystrophies (DMD/BMD) result in progressive weakness of skeletal and cardiac muscles due to the deficiency of functional dystrophin.
Carsana, Antonella, Esposito, Gabriella
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