The role of frataxin in fission yeast iron metabolism: Implications for Friedreich’s ataxia

The role of frataxin in fission yeast iron metabolism: Implications for Friedreich’s ataxia. Yu Wang, Yiwei Wang, S. Marcus, L.S. Busenlehner; Biochimica et Biophysica Acta (BBA) - General Subjects, Available online 3 July 2014, ISSN 0304-4165, http://dx.doi.org/10.1016/j.bbagen.2014.06.017

This paper provide evidence that suggests dysregulated Fe-S cluster biogenesis is a primary effect of both frataxin overexpression and deficiency as in Friedreich’s ataxia, it also suggests that therapies to increase transcription and translation of endogenous frataxin or to replace exogenous frataxin via gene therapy, must tightly control protein expression since high levels of frataxin are detrimental to the cell in a manner similar to its deficiency.

Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND)

Preliminary Study of the Scale To Assess Ataxia and Neurologic Dysfunction (STAND). Sponsor: University of South Florida; ClinicalTrials.gov identifier: NCT02179333, First received: June 27, 2014

Subjects with Ataxia, Patients with a diagnosis of ataxia (Friedreich's ataxia or Spinocerebellar ataxia type 1-30) aged 18-80 years old will be recruited for the study.

Biomarkers for Mitochondrial Diseases Emerging

Biomarkers for Mitochondrial Diseases Emergin,  CHOP, Friedreich’s Ataxia Center of Excellence, by Research Communications, Jul 01 2014

Nuevas aproximaciones terapéticas para el tratamiento de la Ataxia de Friedreich: HBSP y BDNF

Nuevas aproximaciones terapéticas para el tratamiento de la Ataxia de Friedreich: HBSP y BDNF; Autor (es): Katsu Jiménez, Yurika María; Director (es): Díaz Nido, Javier (dir.) Tesis doctoral inédita, leída en Universidad Autónoma de Madrid, Facultad de Ciencias, Departamento de Biología Molecular. Fecha de lectura: 15/07/2013

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Joint preserving surgery versus arthrodesis in operative treatment of patients with neuromuscular polyneuropathy: questionnaire assessment.

Joint preserving surgery versus arthrodesis in operative treatment of patients with neuromuscular polyneuropathy: questionnaire assessment. Marek Napiontek,
Krzysztof Pietrzak; European Journal of Orthopaedic Surgery & Traumatology, June 2014, DOI 10.1007/s00590-014-1498-9

Keywords: Foot, Paralytic deformity, Charcot–Marie–Tooth disease, Friedreich ataxia, Neuromuscular polyneuropathy

The results show that none of the surgical techniques used for correction of foot deformities in motor-sensory polyneuropathies seems to be preferable.

MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia

MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia . Ezzatizadeh V, Sandi C, Sandi M, Anjomani-Virmouni S, Al-Mahdawi S, Pook MA., PLoS ONE 9(6): e100523. doi:10.1371/journal.pone.0100523

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Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry

Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry. Jennifer Bridwell-Rabb, Nicholas G. Fox, Chi-Lin Tsai, Andrew M Winn, and David P. Barondeau. Biochemistry Just Accepted Manuscript. DOI: 10.1021/bi500532e Publication Date (Web): June 27, 2014

Lanzaderas y terapia génica contra la ataxia de Friedreich

Lanzaderas y terapia génica contra la ataxia de Friedreich .“excelenciencia.org”. 19/06/2014

"Si se cumplen las previsiones, apunta Teixidó, antes de las próximas navidades la tecnología resultante de esta unión debería verificarse en modelos animales e iniciar el camino de investigación preclínica que finalmente desemboque en un eventual ensayo clínico."

La unión de los dos centros de investigación y la capacidad de la plataforma permitieron desarrollar un sólido proyecto que atrajo la atención de la estadounidense The Friedreich's Ataxia Research Alliance (FARA), http://www.curefa.org/ de gran potencia organizativa y, sobre todo, económica.

Corneal Sensitivity and Tear Function in Neurodegenerative Diseases.

Corneal Sensitivity and Tear Function in Neurodegenerative Diseases. Ornek N, Dağ E, Ornek K; Current eye Research [2014:1-6]

FA patients did not show any abnormalities in either outcome measures, Corneal sensitivity measured using a Cochet-Bonnet esthesiometer and Tear function tests which included tear break-up time (TBUT) and Schirmer's. This may be attributed to, unlike other Neurodegenerative Diseases, lack of autonomic disturbances in FA patients

Powerhouse down: Complex II dissociation in the respiratory chain

Powerhouse down: Complex II dissociation in the respiratory chain. Hwang MS, Rohlena J, Dong LF, Neuzil J, Grimm S., Mitochondrion (2014), http://dx.doi.org/10.1016/j.mito.2014.06.001

KEYWORDS: apoptosis; complex II; mitochondria; iron sulfur clusters.