The molecular basis of iron-induced oligomerization of frataxin and the role of the ferroxidation reaction in oligomerization

The molecular basis of iron-induced oligomerization of frataxin and the role of the ferroxidation reaction in oligomerization . Christopher A. G. Soderberg, Sreekanth Rajan, Aleksander V. Shkumatov, Oleksandr Gakh, Susanne Schaefer, Eva-Christina Ahlgren, Dmitri I. Svergun, Grazia Isaya and Salam Al-Karadaghi. J. Biol. Chem. jbc.M112.442285. First Published on January 23, 2013, doi:10.1074/jbc.M112.442285

Keywords: Iron-induced oligomerization, frataxin, catalyzed ferroxidation, iron availability, iron delivery.

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases

The role of mitochondrial OXPHOS dysfunction in the development of neurologic diseases.M.E. Breuer, W.J. Koopman, S. Koene, M. Nooteboom, R.J. Rodenburg, P.H. Willems, J.A.M. Smeitink. Neurobiology of Disease, Volume 51, March 2013, Pages 27-34.

Keywords: Mitochondrial dysfunction, Neurodegenerative diseases, Bioenergetics, Cellular metabolism

Friedreich Ataxia: Neuropathology Revised.

Friedreich Ataxia: Neuropathology Revised.. Koeppen, Arnulf H. MD.; Mazurkiewicz, Jose. Journal of Neuropathology & Experimental Neurology, 72:2 2013 Feb pg 78-90.

Keywords: Friedreich ataxia, Low frataxin levels, iron-sulfur clusters, aconitase, dorsal root ganglia, dorsal columns, transsynaptic atrophy, Clarke column, dorsal spinocerebellar fibers, gracile and cuneate nuclei, sensory nerves, dentate nucleus.

Neuromuscular scoliosis

Neuromuscular scoliosis. R. Vialle, C. Thévenin-Lemoine, P. Mary; Orthopaedics & Traumatology: Surgery & Research, Available online 18 January 2013. DOI: http://dx.doi.org/10.1016/j.otsr.2012.11.002,


Highlight: "Surgical treatment of neuromuscular scoliosis differs from idiopathic scoliosis".
"Non-surgical measures rarely fully control progressive scoliosis".

Keywords: Neuromuscular scoliosis, surgical treatment, idiopathic scoliosis, complications rate, Non-surgical measures, muscular hypotonia.

The Cerebellum Looks Normal in Friedreich Ataxia.

The Cerebellum Looks Normal in Friedreich Ataxia. Mascalchi M.; AJNR Am J Neuroradiol originally published online on January 17, 2013, 10.3174/ajnr.A3480.

No abstract

Friedreich Ataxia: Dysarthria Profile and Clinical Data.

Friedreich Ataxia: Dysarthria Profile and Clinical Data. Brendel B, Ackermann H, Berg D, Lindig T, Schölderle T, Schöls L, Synofzik M, Ziegler W., Cerebellum. 2013 Jan 13. DOI http://dx.doi.org/10.1007/s12311-012-0440-0

Keywords: Friedreich ataxia (FRDA), dysarthria severity, profile of speech motor deficits, disease duration.

NAF Funded Research for FA in 2013

NAF Funded Research for FA in 2013.

Research Grants:

Generation of peripheral sensory neurons from Friedreich’s ataxia human iPS cell lines, Chintawar, Satyan, Ph.D. Université Libre de Bruxelles - Erasme Hospital, Belgium.

YOUNG INVESTIGATOR AWARDS:

Development of new mouse models of Friedreich’s Ataxia Baines, Christopher P., Ph.D., University of Missouri-Columbia, Kansas, MO

Seminar at SWOSU: “The Role of Frataxin in the Neurodegenerative Disease Friedreich’s Ataxia”

Seminar at SWOSU: “The Role of Frataxin in the Neurodegenerative Disease Friedreich’s Ataxia”.
January 10, 2013, Dr. Laura Busenlehner, assistant professor in the Department of Chemistry at the University of Alabama, will give a seminar at Southwestern Oklahoma State University on Thursday, January 17, on the Weatherford campus.

Busenlehner’s seminar is titled “The Role of Frataxin in the Neurodegenerative Disease Friedreich’s Ataxia”. Her seminar will focus on the inorganic chemistry, biochemistry and biophysical characterization of the Frataxin protein.

STATegics, Inc. Announces a New Grant from Friedreich’s Ataxia Research Alliance

STATegics, Inc. Announces a New Grant from Friedreich’s Ataxia Research Alliance. PRLog (Press Release) - Jan. 8, 2013 - Menlo Park, California.

STATegics, Inc. awarded a new grant from the Friedreich’s Ataxia Research Alliance (FARA) to advance erythropoietin receptor agonist compounds for the treatment of Friedreich’s ataxia (FRDA).

Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Friedreich's Ataxia Clinical Trial

Edison Pharmaceuticals Announces Initiation of EPI-743 Phase 2B Friedreich's Ataxia Clinical Trial. PR Newswire, Press release Jan. 7, 2013, 12:01 a.m. EST

MOUNTAIN VIEW, Calif., Jan. 7, 2013 /PRNewswire via COMTEX/ -- Edison Pharmaceuticals today announced the initiation of a phase 2B study entitled, "Safety and Efficacy Study of EPI-743 on Visual Function in Patients with Friedreich's Ataxia." The trial is a placebo-controlled study lasting six months, followed by an extension phase in which all subjects will receive EPI-743.

More information on study specifics is available on ClinicalTrials.gov.