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

OPEN ACCESS

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.

HSOP's Mouli Wins Most Outstanding At Auburn's Research Week

HSOP's Mouli Wins Most Outstanding At Auburn's Research Week. The Auburn pharmacist e-news, Auburn University. June 12, 2014

Currently she is developing novel drug strategies for increasing the transcriptional regulation of frataxin to mitigate the detrimental effects of Doxorubicin upon frataxin.

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function. Santiago E. Faraj, Ernesto A. Roman, Martin Aran, Mariana Gallo and Javier Santos; FEBS Journal, Accepted manuscript online: 12 JUN 2014, DOI: 10.1111/febs.12869

In 5% of patients the typical GAA expansion is present in only one fxn allele and a missense mutation is found in the other allele. the disease course in these patients can be as severe as for patients with two expanded alleles.

The Alteration of the C-terminal Region of Human Frataxin Distorts its Structural Dynamics and Function in L198R mutant, or its complete truncation in FXN 81-193 causes FRDA.

SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1

SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1; S M Jeong, J Lee, L W S Finley, P J Schmidt, M D Fleming and M C Haigis; Oncogene advance online publication 9 June 2014; doi: 10.1038/onc.2014.124

The activity of SIRT3 is inhibited in frataxin-deficient heart, it may contribute to the cardiomyopathy in Friedreich’s ataxia. Friedreich’s ataxia cells exhibit an increased IRP1 activity and iron accumulation, thus, it will be interesting for future studies to examine the role of SIRT3 in systemic iron homeostasis and iron-related human diseases.

Autologous Stem Cell Transplant with Gene Therapy for Friedreich Ataxia

Autologous Stem Cell Transplant with Gene Therapy for Friedreich Ataxia; P.T. Naoki Tajiri, B.S. Meaghan Staples, Yuji Kaneko, Seung U. Kim, Theresa A. Zesiewic, Cesar V. Borlongan, Medical Hypotheses, Available online 9 June 2014, ISSN 0306-9877, http://dx.doi.org/10.1016/j.mehy.2014.05.022.

HDAC Inhibition Appears Safe in Early Trial on Friedreich's Ataxia

HDAC Inhibition Appears Safe in Early Trial on Friedreich's Ataxia, NEWS FROM THE AAN ANNUAL MEETING. Neurology Today:
5 June 2014 - Volume 14 - Issue 11 - p 46-47, doi: 10.1097/01.NT.0000451003.10471.a7

In a phase 1 trial, a histone deacetylase inhibitor appears to be safe and to increase expression of the frataxin gene in adult patients with Friedreich's ataxia.