Mössbauer Study and Modeling of Iron Import and Trafficking in Human Jurkat Cells

Mössbauer Study and Modeling of Iron Import and Trafficking in Human Jurkat Cells. Nema D. Jhurry, Mrinmoy Chakrabarti, Sean P. McCormick, Vishal M. Gohil, and Paul A. Lindahl; Biochemistry, Article ASAP. DOI: 10.1021/bi401015t Publication Date (Web): November 1, 2013.

Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxia

Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxia. Vincent Pureza, Linda Hasadsri, W. Edward Highsmith, Devin Oglesbee; Mitochondrion, Volume 13, Issue 6, November 2013, Page 925.

"We hypothesize that the cardiac manifestations will predominantly present as a diastolic dysfunction"

Iron metabolism and the role of iron in neurodegenerative disorders

Iron metabolism and the role of iron in neurodegenerative disorders; Maya Hadzhieva, Elmar Kirches, Christian Mawrin. Neuropathology and Applied Neurobiology
Accepted Article (Accepted, unedited articles published online and citable. The final edited and typeset version of record will appear in future.) DOI: 10.1111/nan.12096

KEYWORDS: neurodegeneration; ROS; iron; mitoferrin; TfR; DMT1; ferritin; frataxin; IscU

Late onset Friedreich ataxia: clinical description of a family in Argentina.

Late onset Friedreich ataxia: clinical description of a family in Argentina.; Perez Akly M and Alvarez F Medicina (B Aires). 2013;73(5):457-460.

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Unclassified cardiomyopathies in neuromuscular disorders.

Unclassified cardiomyopathies in neuromuscular disorders.. Finsterer J, Stöllberger; Wien Med Wochenschr 2013 Oct 24

Clinical Neurogenetics : Friedreich Ataxia

Clinical Neurogenetics : Friedreich Ataxia. Abigail Collins; Neurologic Clinics, Volume 31, Issue 4, November 2013, Pages 1095-1120. http://dx.doi.org/10.1016/j.ncl.2013.05.002

Modelling biochemical features of mitochondrial neuropathology

Modelling biochemical features of mitochondrial neuropathology ; Matthew J. Bird, David R. Thorburn, Ann E. Frazier; Biochimica et Biophysica Acta (BBA) - General Subjects, Available online 23 October 2013. http://dx.doi.org/10.1016/j.bbagen.2013.10.017

Keywords: Neuropathology; mitochondrial disease; mouse models; cybrids; iPS; OXPHOS; membrane potential; Ca2 +; reactive oxygen species; mitochondrial morphology; frataxin

The Nervous System Cytoskeleton under Oxidative Stress

The Nervous System Cytoskeleton under Oxidative Stress. Gardiner, J.; Overall, R.; Marc, J.; Diseases 2013, 1, 36-50.

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Fixing Frataxin: “Ironing Out” the Metabolic Defect in Friedreich's Ataxia

Fixing Frataxin: “Ironing Out” the Metabolic Defect in Friedreich's Ataxia. A. Anzovino, D. J. R. Lane, M. L.-H. Huang, D. R. Richardson, British Journal of Pharmacology, Accepted manuscript online: 21 OCT 2013, DOI: 10.1111/bph.12470

Keywords: Frataxin; Mitochondrial Iron Accumulation; Oxidative Stress; Autophagy; Cardio- and Neuro-Degeneration; Friedriech's Ataxia

Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia

Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia. ClinicalTrials.gov (October 17, 2013).

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g) could raise frataxin protein levels in both cell lines derived from patients with Friedreich ataxia and in a mouse model with Friedreich ataxia. The present study will test whether IFN-g is safe, tolerated and potentially efficacious in a heterogeneous cohort of children with FRDA.

Sponsor: Children's Hospital of Philadelphia
Collaborators: Friedreich Ataxia Research Alliance (FARA), Vidara Therapeutics Research Ltd
Information provided by (Responsible Party): Children's Hospital of Philadelphia