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FARAFARA Cure FA

 

Supported Research

The research listed below was partially supported by FARA thanks to your generosity.

For more information on FARA-funded research & scientists, please visit FARA Funded Research, Active Clinical Trials and the Featured Scientist.


 

 

Applying the Retro-Enantio Approach to Obtain a Peptide Capable of Overcoming the Blood-Brain Barrier

The blood-brain barrier (BBB) is a formidable physical and enzymatic barrier that tightly controls the passage of molecules from the blood to the brain. In fact, less than 2 % of all potential neurotherapeutics are able to cross it.

Read More: Applying the Retro-Enantio Approach to Obtain a Peptide Capable of Overcoming the Blood-Brain Barrier

Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction

BACKGROUND:

Friedreich's ataxia (FRDA) is a neurodegenerative disorder resulting from deficiency of frataxin, characterized by cardiac hypertrophy associated with heart failure and sudden cardiac death. However, the relationship between remodeling and novel measures of cardiac function such as strain, and the time-dependent changes in these measures are poorly defined.

Read More: Longitudinal Strain in Friedreich Ataxia: A Potential Marker for Early Left Ventricular Dysfunction

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich's Ataxia

BACKGROUND:

Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein. Heterozygous carriers of the expansion express approximately 50% of normal frataxin levels yet manifest no clinical symptoms, suggesting that therapeutic approaches that increase frataxin may be effective even if frataxin is raised only to carrier levels. Small molecule HDAC inhibitor compounds increase frataxin mRNA and protein levels, and have beneficial effects in animal models of FRDA.

Read More: Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich's Ataxia

Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database

The aim of this cross-sectional study was to analyse disease progression in Friedreich’s ataxia as measured by the International Cooperative Ataxia Rating Scale. Single ratings from 603 patients with Friedreich’s ataxia were analysed as a function of disease duration, age of onset and GAA repeat lengths. The relative contribution of items and subscales to the total score was studied as a function of disease progression. In addition, the scaling properties were assessed using standard statistical measures.

Read More: Rating disease progression of Friedreich's ataxia by the International Cooperative Ataxia Rating Scale: analysis of a 603-patient database

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