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.

From mice to men: lessons from mutant ataxic mice

From mice to men: lessons from mutant ataxic mice. Jan Cendelin, Cerebellum & Ataxias 2014 1:4, doi:10.1186/2053-8871-1-4

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Quantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich’s Ataxia Patient iPSC derived Neural Stem Cells

Quantitative proteomic analysis identifies targets and pathways of a 2-aminobenzamide HDAC inhibitor in Friedreich’s Ataxia Patient iPSC derived Neural Stem Cells. Bing Shan, Chunping Xu, Yaoyang Zhang, Tao Xu, Joel Gottesfeld, and John R. Yates; J. Proteome Res., Just Accepted Manuscript, DOI: 10.1021/pr500514r, Publication Date (Web): June 16, 2014

Brush strokes only can reveal it? Defining certain ultra-structural alterations in hairs of Friedreich’s Ataxia patients as a promising pre-diagnostic approach

Brush strokes only can reveal it? Defining certain ultra-structural alterations in hairs of Friedreich’s Ataxia patients as a promising pre-diagnostic approach. F. Pinar Turkmenoglu, U. Baran Kasirga; Abstracts of IFAA Congress, Annals of Anatomy - Anatomischer Anzeiger, Volume 196, Supplement, August 2014, Pages 1-286, ISSN 0940-9602, http://dx.doi.org/10.1016/j.aanat.2014.05.035.

In a scanning electron microscope examination ultra-structural hair alterations were differentiated by the time along with increasing neurologic symptoms, perhaps can be considered a pre-diagnostic tool for FRDA.