Results 211 to 220 of about 47,907 (257)

Mitochondrial regulation of lactylation in sepsis-induced cardiomyopathy. [PDF]

Crit Care
Zhong Y, Shen S, You Q, Wang J, Wu Q, Zhang L.   +5 more
europepmc   +1 more source

Metabolites as regulators of autoimmune diseases. [PDF]

Front Immunol
Tada M, Kono M.
europepmc   +1 more source

Glycerol and Glycerol-3-Phosphate: Multifaceted Metabolites in Metabolism, Cancer, and Other Diseases.

Endocr Rev
Madiraju SRM, Possik E, Al-Mulla F, Nolan CJ, Prentki M.   +4 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

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   +3 more sources

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   +3 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   +3 more sources

Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet

American Journal of Medical Genetics. Part A
Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial disorder of carbohydrate oxidation characterized by lactic acidosis and central nervous system involvement. Knowledge of the affected metabolic pathways and clinical observations suggest
Aaron B Bowen, Otto Rapalino, Camilo Jaimes, E. Ratai, Yingyi Zhong, Elizabeth A. Thiele, A. Kritzer, R. Ganetzky, Nina B. Gold, Melissa A Walker   +9 more
semanticscholar   +1 more source

Difficulties in diagnosing pyruvate dehydrogenase complex deficiency based on clinical and biochemical data: series of clinical case reports

PEDIATRIA Journal named after G N SPERANSKY
Pyruvate dehydrogenase complex deficiency (PDC) is a mitochondrial disease associated with a violation of pyruvate metabolism and leading to a decrease in ATP production. PDC is responsible for the decarboxylation of pyruvate into acetyl-CoA.
S. Mikhaylova, E. Zakharova, M. V. Zazhivikhina, N. A. Votyakova, M.E. Abdullina, P. Tsygankova, Y. Yurasova, E.L. Usacheva, E. Petryaykina   +8 more
semanticscholar   +1 more source

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

Journal of Child Neurology
Pyruvate dehydrogenase complex (PDC) deficiency is a rare mitochondrial disorder characterized by impaired oxidative metabolism, predominantly due to pathogenic variants in the PDHA1 gene.
Sofia Corbaz, Daniela Alejandra Pibernus, M. Loos, María Mercedes Pérez, María Celeste Buompadre, F. García, María Paula Rodriguez, Carlos Rugilo, M. Armeno, Go Hun Seo, Rin Khang, C. Alonso, H. Aráoz   +12 more
semanticscholar   +1 more source