Results 261 to 270 of about 66,093 (301)

Cytochromec oxidase deficiency in infancy

Acta Neuropathologica, 1989
Five children with early onset of muscle weakness, lactic acidosis and deficient cytochrome c oxidase staining in the muscle biopsy were studied. By oximetric assay of the respiratory chain of isolated mitochondria, cytochrome c oxidase deficiency was confirmed in four of the cases, while one case showed only a slight decrease of cytochrome c oxidase ...
A, Oldfors, H, Sommerland, E, Holme, M, Tulinius, B, Kristiansson   +4 more
openaire   +2 more sources

Benign reversible muscle cytochrome c oxidase deficiency

Neurology, 1987
A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis resolved, and the patient started to improve; assisted ventilation was discontinued at 15 months. Muscle biopsies at 4 and 11 months showed accumulation of mitochondria, lipid, and glycogen; cytochrome c oxidase (COX ...
Zeviani M., Peterson P., Servidei S., Bonilla E., DiMauro S.   +4 more
openaire   +3 more sources

Fibroblasts and Cytochrome c Oxidase Deficiency

1989
Adenosine triphosphate (ATP) is the universal cellular energy currency, and is produced primarily by the enzymes of the respiratory chain. These enzymes are integral, multisubunit components of the inner mitochondrial membrane. They are responsible for the coupled oxidation of metabolites and pEosphorylation of ADP (adenosine diphosphate).
D. M. Glerum, B. H. Robinson, R. Capaldi
openaire   +1 more source

Cytochrome c oxidase deficiency in leigh syndrome

Annals of Neurology, 1987
AbstractWe studied 6 mitochondrial enzymes in crude extracts and isolated mitochondria from 5 children with pathologically proven subacute necrotizing encephalomyelopathy (Leigh syndrome). Samples were taken from brain (5 patients), skeletal muscle (4 patients), liver (4 patients), kidney (4 patients), heart (1 patient), and cultured fibroblasts (3 ...
DiMauro S., Servidei S., Zeviani M., DiRocco M., DeVivo D. C., DiDonato S., Uziel G., Berry K., Hoganson G., Johnsen S. D., Johnson P. C.   +10 more
openaire   +2 more sources

Cytochrome c oxidase deficiency in menkes kinky hair disease

Brain and Development, 1983
In a 4-year-old male with Menkes kinky hair disease (MKHD) treated with copper supplement therapy, reduced cytochrome a + a3 contents in liver was demonstrated to be 0.029 against 0.128 nmol/mg protein in the control. Cytochrome c oxidase activities in brain, liver, skeletal muscle, and heart were 47, 22, 54 and 59% of the control, respectively.
M, Maehara, N, Ogasawara, N, Mizutani, K, Watanabe, S, Suzuki   +4 more
openaire   +2 more sources

Human Cytochrome c Oxidase: Structure, Function, and Deficiency

Journal of Bioenergetics and Biomembranes, 1997
As the terminal component of the mitochondrial respiratory chain, cytochrome c oxidase plays a vital role in cellular energy transformation. Human cytochrome c oxidase is composed of 13 subunits. The three major subunits form the catalytic core and are encoded by mitochondrial DNA (mtDNA). The remaining subunits are nuclear-encoded.
openaire   +2 more sources

Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria

Neuromuscular Disorders, 1995
Markedly reduced cytochrome c oxidase (COX) activity was found in cultured skin fibroblasts of an infant with recurrent episodes of acute myoglobinuria, hypertonia, muscle stiffness and elevated plasma levels of sarcoplasmic enzymes (creatine kinase 96950 U/l, normal below 150) since the age of 3 weeks (COX activity: 36 nmol/min/mg protein; normal 65 ...
P, Saunier, D, Chretien, C, Wood, A, Rötig, J P, Bonnefont, J M, Saudubray, D, Rabier, A, Munnich, P, Rustin   +8 more
openaire   +2 more sources

Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency

Pediatric Research, 2003
Cytochrome c oxidase (COX) deficiency has been associated with a variety of clinical conditions and can be due to mutations in nuclear or mitochondrial genes. Despite recent progress in our understanding of the molecular bases of COX deficiency, the genetic defect remains elusive in many cases.
SACCONI S, SALVIATI, LEONARDO, SUE CM, SHANSKE S, DAVIDSON MM, BONILLA E, NAINI AB, DE VIVO DC, DIMAURO S.   +8 more
openaire   +3 more sources

Muscle pathology in cytochromec oxidase deficiency

Acta Neuropathologica, 1988
Muscle biopsies from 16 patients with cytochrome c oxidase (CCO) deficiency were examined morphologically. Two siblings had the fatal infantile form. The muscle of the older sister at the age of 5 months had numerous ragged-red fibers (RRF) and increased numbers of lipid droplets; at 28 days the brother had no RRF suggesting that the RRF formed later ...
I, Nonaka, Y, Koga, K, Shikura, M, Kobayashi, N, Sugiyama, E, Okino, K, Nihei, M, Tojo, M, Segawa   +8 more
openaire   +2 more sources

The Many Clinical Faces of Cytochrome c Oxidase Deficiency

2012
Cytochrome c oxidase (COX) catalyzes the last step in respiration, transferring electrons from cytochrome c to molecular oxygen and coupling electron transfer with proton translocation from the mitochondrial matrix to the intermembrane space. COX is composed of 13 subunits, three larger catalytic subunits encoded by mitochondrial DNA (mtDNA) and ten ...
Salvatore, DiMauro, Kurenai, Tanji, Eric A, Schon   +2 more
openaire   +2 more sources