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Scientific News

FARA funds research progress

In this section, you will find the most recent FA research publications, many of which are funded by FARA, as well as information on upcoming conferences and symposiums. You can search for articles by date using the archive box in the right hand column. To locate FARA Funded or Supported Research, click the hyperlink in the right hand column. You may also search for specific content using key words or phrases in the search button at the top right of your screen. Please be sure to visit other key research sections of our website for information on FARA’s Grant Program and the Treatment Pipeline.


Expression of Human Frataxin Is Regulated by Transcription Factors SRF and TFAP2

Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN. Augmentation of frataxin expression levels in affected Friedreich ataxia patient tissues might substantially slow disease progression.

Expression of Human Frataxin Is Regulated by Transcription Factors SRF and TFAP2

Exercise Capacity and Idebenone Intervention in Children and Adolescents With Friedreich Ataxia

Abstract

OBJECTIVE:

To determine the exercise capacity of children and adolescents with Friedreich's Ataxia (FA) and to evaluate the effects of 6 months of idebenone treatment on exercise capacity.

DESIGN:

Exploratory endpoint in a randomized double-blind, placebo-controlled, phase II clinical trial designed to investigate the effects of idebenone on a biomarker of oxidative stress.

SETTING:

Exercise physiology laboratory in a single clinical research center.

Exercise Capacity and Idebenone Intervention in Children and Adolescents With Friedreich Ataxia

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by reduced amounts of the mitochondrial protein frataxin. Frataxin levels in research studies are typically measured via Western blot analysis from patient fibroblasts, lymphocytes, or muscle biopsies; none of these is ideal for rapid detection in large scale clinical studies. Recently, a rapid, noninvasive lateral flow immunoassay was developed to accurately measure picogram levels of frataxin protein and shown to distinguish lymphoblastoid cells from FRDA carriers, patients and controls.

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

Evaluation of neuropsychological functions in patients with Friedreich ataxia before and after cognitive therapy

Friedreich ataxia (FA) is a neurodegenerative disease characterized by progressive nervous system damage resulting in severe disability. Cognitive functions and mood disorders in FA have been studied little and with conflicting results. The aim of this study was to investigate cognitive functions and mood disorders in FA subjects and the role of cognitive rehabilitation therapy (sequential treatments) performed during a scheduled study period.

Evaluation of neuropsychological functions in patients with Friedreich ataxia before and after cognitive therapy

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