Results 201 to 210 of about 22,061 (226)

PARP inhibitors target cellular energy metabolism: Mechanisms of action and clinical implications. [PDF]

Transl Oncol
Li J, Mu D, Li J, Lan M, Wu W, Zhang S, Dai Y.   +6 more
europepmc   +1 more source

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders. [PDF]

J Innate Immun
Wolf A, Montanelli G, Mathis D, Felser A, Laemmle A, Nuoffer JM, Gautschi M, Bourquin C, Stojkov D.   +8 more
europepmc   +1 more source

Macrophage metabolism reprogramming in sepsis: Pathogenesis and therapeutic implications (Review). [PDF]

Int J Mol Med
Zhao T, Zhang W, Ren Z, Feng X.
europepmc   +1 more source

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

Pediatrics, 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, S J, DeArmond, T K, Koch, M S, Patel, C J, Newth, K A, Schmidt, S, Packman   +6 more
openaire   +4 more sources

Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population‐based study

Journal of Inherited Metabolic Disease, 2022
The vast clinical and radiological spectrum of pyruvate dehydrogenase complex (PDHc) deficiency continues to pose challenges both in diagnostics and disease monitoring. Prompt diagnosis is important to enable early initiation of ketogenic diet.
Antri Savvidou, Karin Naess, Erik A Eklund   +2 more
exaly   +2 more sources

Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis

Medical Hypotheses, 2021
Pyruvate dehydrogenase (PDH) deficiency is an inherited metabolic disorder caused by a defect in any subunit of the pyruvate dehydrogenase complex (PDHC), which has an essential role in glucose metabolism.
Ji Young Oh, Chung Mo Koo, Kyung Won Kim
exaly   +2 more sources

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

Neurology, 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 ...
L M, Hinman, K F, Sheu, A C, Baker, Y T, Kim, J P, Blass   +4 more
openaire   +2 more sources

LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency

American Journal of Medical Genetics Part A, 2018
Lipoic acid is an essential cofactor for the mitochondrial 2‐ketoacid dehydrogenase complexes and the glycine cleavage system. Lipoyltransferase 1 catalyzes the covalent attachment of lipoate to these enzyme systems. Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe ...
Robert C. Stowe, Qin Sun, Sarah H. Elsea, Fernando Scaglia   +3 more
openaire   +2 more sources