Assessment of cell-free levels of iron and copper in patients with Friedreich’s ataxia
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DOI: 10.1007/s10534-019-00186-4
Abstract: Friedreich’s ataxia (FRDA), a progressive neurodegenerative disorder caused by trinucleotide (GAA) repeat expansion in frataxin (fxn) gene which results in decreased levels of frataxin protein. Insufficient frataxin levels leads to iron and copper deposits in… read more here.
Keywords: iron copper; friedreich ataxia; frataxin; copper ... See more keywords
Pre-clinical left ventricular myocardial remodeling in patients with Friedreich’s ataxia: A cardiac MRI study
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DOI: 10.1371/journal.pone.0246633
Abstract: Background Heart Failure (HF) is the most common cause of death in Friedreich’s ataxia (FRDA), an inherited mitochondrial disease. Myocardial fibrosis and myocardial hypertrophy are well-documented autopsy features among FRDA patients with HF. Objectives To… read more here.
Keywords: friedreich ataxia; myocardial remodeling; cardiomyocyte size; frda patients ... See more keywords
Cerebrospinal Fluid Proteomics in Friedreich Ataxia Reveals Markers of Neurodegeneration and Neuroinflammation
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DOI: 10.3389/fnins.2022.885313
Abstract: Clinical trials in rare diseases as Friedreich ataxia (FRDA) offer special challenges, particularly when multiple treatments become ready for clinical testing. Regulatory health authorities have developed specific pathways for “orphan” drugs allowing the use of… read more here.
Keywords: frda patients; cerebrospinal fluid; friedreich ataxia; neurodegeneration neuroinflammation ... See more keywords