friedreich ataxia/carbohydrate

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A mild case of Friedreich ataxia: lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism.

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Prijava / prijava

Friedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease, characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, Babinski sign, loss of position and vibration senses, cardiomyopathy, and carbohydrate intolerance. It is the most common inherited

Friedreich ataxia: III. Mitochondrial malic enzyme deficiency.

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Polarographic assays of oxidative phosphorylation in muscle mitochondria indicated abnormal pyruvate-malate metabolism in Friedreich ataxia (FA). Pursuing this clue, more specific assays were performed. Mitochondrial malic enzyme (MEm; malate: NADP+ oxidoreductase) specific activity was 10% of

Metabolic engineering of Enterobacter cloacae for high-yield production of enantiopure (2R,3R)-2,3-butanediol from lignocellulose-derived sugars.

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Prijava / prijava

Biotechnological production of biofuels is restricted by toxicity of the products such as ethanol and butanol. As its low toxicity to microbes, 2,3-butanediol (2,3-BD), a fuel and platform bio-chemical, could be a promising alternative for biofuel production from renewable bioresources. In addition,

Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases.

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In recent years, it has become increasingly clear that mitochondrial dysfunction and oxidative damage are major contributors to neuronal loss. Free radicals, typically generated from mitochondrial respiration, cause oxidative damage of nucleic acids, lipids, carbohydrates and proteins. Despite

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