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FARA Funded Research

Your generous support has funded all the research listed below.


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

Gait and Balance in Adults with Friedreich's Ataxia

Friedreich's ataxia (FA) is an autosomal recessive, neurodegenerative disease characterized by progressive muscle weakness and sensory loss, balance deficits, and gait ataxia. Gait and balance impairments become worse as the disease progresses, but limited research has quantitatively assessed these deficits in adults with FA.

Read More: Gait and Balance in Adults with Friedreich's Ataxia

Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia

Friedreich's ataxia (FRDA) is a neurodegenerative disorder associated with cardiomyopathy and diabetes. Effective therapies for FRDA are an urgent unmet need; there are currently no options to prevent or treat this orphan disease. FRDA is caused by reduced expression of the mitochondrial protein frataxin.

Read More: Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells

Friedreich ataxia is an inherited neurodegenerative disease that leads to progressive disability. There is currently no effective treatment and patients die prematurely. The underlying genetic defect leads to reduced expression of the mitochondrial protein frataxin.

Read More: Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells

Fe-S cluster biogenesis in isolated mammalian mitochondria: coordinated use of persulfide sulfur and iron, and requirements for GTP, NADH, and ATP

Iron-sulfur (Fe-S) clusters are essential cofactors, and mitochondria contain several Fe-S proteins, including the [4Fe-4S] protein aconitase and the [2Fe-2S] protein ferredoxin. Fe-S cluster assembly of these proteins occurs within mitochondria. Although considerable data exist for yeast mitochondria, this biosynthetic process has never been directly demonstrated in mammalian mitochondria.

Read More: Fe-S cluster biogenesis in isolated mammalian mitochondria: coordinated use of persulfide sulfur and iron, and requirements for GTP, NADH, and ATP

Consensus clinical management guidelines for Friedreich ataxia

Friedreich ataxia (FRDA), a multisystem autosomal recessive condition, is the most common inherited ataxia in Caucasians, affecting approximately 1 in 29,000 individuals. The hallmark clinical features of FRDA include progressive afferent and cerebellar ataxia, dysarthria, impaired vibration sense and proprioception, absent tendon reflexes in lower limbs, pyramidal weakness, scoliosis, foot deformity and cardiomyopathy.

Read More: Consensus clinical management guidelines for Friedreich ataxia

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