Results 151 to 160 of about 16,904 (180)

E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development. [PDF]

open access: yesNat Commun
Di Michele M   +44 more
europepmc   +1 more source

Pyruvate Dehydrogenase Complex Deficiency as a Cause of Subacute Necrotizing Encephalopathy (Leigh Disease)

open access: closedPediatrics, 1987
Leigh disease is a disorder with great clinical variability and for which diverse biochemical causes have been proposed. Clarification requires rigorous correlation of biochemical abnormalities with strict morphologic diagnosis; such an unambiguous association is the subject of this report.
H A, Kretzschmar   +6 more
openaire   +3 more sources

Deficiency of pyruvate dehydrogenase complex (PDHC) in Leigh's disease fibroblasts

open access: closedNeurology, 1989
Several groups have reported abnormalities of the pyruvate dehydrogenase complex (PDHC) in cultured cells or other tissues from patients with Leigh's disease (subacute necrotizing encephalomyelopathy). We therefore undertook studies to elucidate the molecular basis of the defect of PDHC in cultured skin fibroblasts from two patients with Leigh's ...
Y. T. Kim   +4 more
openaire   +4 more sources

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