Tags | Diagenode

A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria.
Published: February, 2011

Abstract: Mutations in the nuclear gene coding for the mitochondrial aspartyl-tRNA synthetase, a key enzyme for mitochondrial translation, are correlated with leukoencephalopathy. A Ser⁴⁵ to Gly⁴⁵ mutation is located in the predicted targeting signal of the...
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Novel isoenzyme of 2-oxoglutarate dehydrogenase is identified in brain, but not in heart.
Published: October, 2008

Abstract: 2-Oxoglutarate dehydrogenase (OGDH) is the first and rate-limiting component of the multienzyme OGDH complex (OGDHC) whose malfunction is associated with neurodegeneration. The essential role of this complex in the degradation of glucose and gluta...
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Mitochondria disruption

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