Journal article
Frataxin levels in peripheral tissue in Friedreich ataxia
Annals of clinical and translational neurology, Vol.2(8), pp.831-842
08/2015
DOI: 10.1002/acn3.225
PMCID: PMC4554444
PMID: 26339677
Abstract
Friedreich ataxia (FRDA) is an autosomal recessive ataxia resulting from mutations in the frataxin gene (FXN). Such mutations, usually expanded guanine-adenine-adenine (GAA) repeats, give rise to decreased levels of frataxin protein in both affected and unaffected tissues. The goal was to understand the relationship of frataxin levels in peripheral tissues to disease status.
Details
- Title: Subtitle
- Frataxin levels in peripheral tissue in Friedreich ataxia
- Creators
- Michael Lazaropoulos - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Yina Dong - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Elisia Clark - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Nathaniel R Greeley - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Lauren A Seyer - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Karlla W Brigatti - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Carlton Christie - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Susan L Perlman - Department of Neurology, University of California Los Angeles Los Angeles, CaliforniaGeorge R Wilmot - Department of Neurology, Emory University Atlanta, GeorgiaChristoper M Gomez - Department of Neurology, University of Chicago Chicago, IllinoisKatherine D Mathews - Department of Neurology, University of Iowa Iowa City, IowaGrace Yoon - Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto Toronto, Ontario, CanadaTheresa Zesiewicz - Department of Neurology, University of South Florida Tampa, FloridaChad Hoyle - Department of Neurology, The Ohio State University Columbus, OhioSub H Subramony - Department of Neurology, University of Florida Gainesville, FloridaAlicia F Brocht - Department of Neurology, University of Rochester Rochester, New YorkJennifer M Farmer - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Robert B Wilson - Department of Pathology and Lab Medicine, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104Eric C Deutsch - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104David R Lynch - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104
- Resource Type
- Journal article
- Publication Details
- Annals of clinical and translational neurology, Vol.2(8), pp.831-842
- DOI
- 10.1002/acn3.225
- PMID
- 26339677
- PMCID
- PMC4554444
- NLM abbreviation
- Ann Clin Transl Neurol
- ISSN
- 2328-9503
- eISSN
- 2328-9503
- Publisher
- United States
- Grant note
- DOI: 10.13039/100002108, name: Friedreich Ataxia Research Alliance
- Language
- English
- Date published
- 08/2015
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020751402771
Metrics
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