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FARAFARA Cure FA

 

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.

 


 

Novel antibody-based strategies for the rapid diagnosis of mitochondrial disease and dysfunction.

We are developing rapid immunoassays to measure the protein levels, enzymatic activities and post-translational modifications of mitochondrial proteins. These assays can be arrayed in multi-analyte panels for biomarker discovery and they can also be used individually at point of care where the level or activity of a small number proteins or even a single protein is highly informative.

Read More: Novel antibody-based strategies for the rapid diagnosis of mitochondrial disease and dysfunction.

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.

Friedreich's ataxia (FRDA), the most common inherited ataxia, is characterized by focal neurodegeneration, diabetes mellitus and life-threatening cardiomyopathy. Frataxin, which is significantly reduced in patients with this recessive disorder, is a mitochondrial iron-binding protein, but how its deficiency leads to neurodegeneration and metabolic derangements is not known.

Read More: Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPAR{gamma} pathway as a therapeutic target in Friedreich's ataxia.

Friedreich's ataxia impact scale: A new measure striving to provide the flexibility required by today's studies.

To develop, using modern techniques of rating scale construction, a new patient reported rating scale for clinical studies of Friedreich's ataxia (FA) that strives to meet the measurement needs of different types of study. Qualitative research methods were used to generate a conceptual framework of the impact of FA, and a pool of items necessary to construct a subscale for each area identified.

Read More: Friedreich's ataxia impact scale: A new measure striving to provide the flexibility required by today's studies.

PNA binding and its effect on in vitro transcription in friedreich's ataxia triplet repeats.

Peptide nucleic acids (PNAs) are DNA mimics in which peptide-like linkages are substituted for the phosphodiester backbone. Homopyrimidine PNAs can invade double-stranded DNA containing the homologous sequence by displacing the homopyrimidine strand from the DNA duplex and forming a PNA/DNA/PNA triplex with the complementary homopurine strand.

Read More: Peptide nucleic acid (PNA) binding and its effect on in vitro transcription in friedreich's ataxia triplet repeats.

Diagnosis and treatment of Friedreich ataxia: a European perspective.

Friedreich ataxia is the most frequent hereditary ataxia, with an estimated prevalence of 3-4 cases per 100,000 individuals. This autosomal-recessive neurodegenerative disease is characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, decreased vibration sense, muscular weakness in the legs, and a positive extensor plantar response.

Read More: Diagnosis and treatment of Friedreich ataxia: a European perspective.

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