caa a22 4500 445824603 CHVBK 20180317145255.0 cr unu---uuuuu 170323e20110301xx s 000 0 eng 10.1007/s00246-011-9943-6 doi (NATIONALLICENCE)springer-10.1007/s00246-011-9943-6 Cardiomyopathy of Friedreich's Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development [Elektronische Daten] [R. Payne, P. Pride, Clifford Babbey] Friedreich's ataxia is a multisystem disorder of mitochondrial function affecting primarily the heart and brain. Patients experience a severe cardiomyopathy that can progress to heart failure and death. Although the gene defect is known, the precise function of the deficient mitochondrial protein, frataxin, is not known and limits therapeutic development. Animal models have been valuable for understanding the basic events of this disease. A significant need exists to focus greater attention on the heart disease in Friedreich's ataxia, to understand its long-term outcome, and to develop new therapeutic strategies using existing medications and approaches. This review discusses some key features of the cardiomyopathy in Friedreich's ataxia and potential therapeutic developments. Springer Science+Business Media, LLC, 2011 Cardiomyopathy nationallicence Friedreich's ataxia nationallicence Mitochondria nationallicence Therapy nationallicence Payne R. Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut, R4302, 46202, Indianapolis, IN, USA aut Pride P. Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut, R4302, 46202, Indianapolis, IN, USA aut Babbey Clifford Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut, R4302, 46202, Indianapolis, IN, USA aut Pediatric Cardiology Springer-Verlag 32/3(2011-03-01), 366-378 0172-0643 32:3<366 2011 32 246 https://doi.org/10.1007/s00246-011-9943-6 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00246-011-9943-6 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Payne R. Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut, R4302, 46202, Indianapolis, IN, USA aut NATIONALLICENCE 700 1- Pride P. Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut, R4302, 46202, Indianapolis, IN, USA aut NATIONALLICENCE 700 1- Babbey Clifford Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, 1044 West Walnut, R4302, 46202, Indianapolis, IN, USA aut NATIONALLICENCE 773 0- Pediatric Cardiology Springer-Verlag 32/3(2011-03-01), 366-378 0172-0643 32:3<366 2011 32 246 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer