Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/19213
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dc.contributor.authorCrombie, Duncan E-
dc.contributor.authorPera, Martin F-
dc.contributor.authorDelatycki, Martin B-
dc.contributor.authorPébay, Alice-
dc.date2016-06-01-
dc.date.accessioned2018-09-13T00:21:12Z-
dc.date.available2018-09-13T00:21:12Z-
dc.date.issued2016-06-01-
dc.identifier.citationInternational journal of cardiology 2016; 212: 37-43-
dc.identifier.urihttp://ahro.austin.org.au/austinjspui/handle/1/19213-
dc.description.abstractFriedreich ataxia (FRDA) is the most common of the inherited ataxias. It is an autosomal recessive disease characterised by degeneration of peripheral sensory neurons, regions of the central nervous system and cardiomyopathy. FRDA is usually due to homozygosity for trinucleotide GAA repeat expansions found within first intron of the FRATAXIN (FXN) gene, which results in reduced levels of the mitochondrial protein FXN. Reduced FXN protein results in mitochondrial dysfunction and iron accumulation leading to increased oxidative stress and cell death in the nervous system and heart. Yet the precise functions of FXN and the underlying mechanisms leading to disease pathology remain elusive. This is particularly true of the cardiac aspect of FRDA, which remains largely uncharacterized at the cellular level. Here, we summarise current knowledge on experimental models in which to study FRDA cardiomyopathy, with a particular focus on the use of human pluripotent stem cells as a disease model.-
dc.language.isoeng-
dc.subjectCardiomyopathy-
dc.subjectFRATAXIN-
dc.subjectFriedreich ataxia-
dc.subjectStem cells-
dc.titleUsing human pluripotent stem cells to study Friedreich ataxia cardiomyopathy.-
dc.typeJournal Article-
dc.identifier.journaltitleInternational journal of cardiology-
dc.identifier.affiliationCentre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Australiaen
dc.identifier.affiliationOphthalmology, Department of Surgery, The University of Melbourne, Australiaen
dc.identifier.affiliationBruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Department of Paediatrics, The University of Melbourne, Australiaen
dc.identifier.affiliationSchool of Psychology and Psychiatry, Monash University, Australiaen
dc.identifier.affiliationDepartment of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australiaen
dc.identifier.affiliationDepartment of Anatomy and Neurosciences, The University of Melbourne, Florey Neuroscience & Mental Health Institute, Walter and Eliza Hall Institute of Medical Research, Australiaen
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.doi10.1016/j.ijcard.2016.03.040-
dc.identifier.pubmedid27019046-
dc.type.austinJournal Article-
dc.type.austinReview-
item.fulltextNo Fulltext-
item.openairetypeJournal Article-
item.languageiso639-1en-
item.cerifentitytypePublications-
item.grantfulltextnone-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptClinical Genetics-
Appears in Collections:Journal articles
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