Benign Cox Deficiency Myopathy
Pediatric Neurology Briefs, 2011 Clinical and pathological features of benign infantile mitochondrial cytochrome c oxidase (COX) deficiency were studied in 8 patients with the disease phenotype seen at the National Center of Neurology and Psychiatry, Tokyo, Japan.
J Gordon Millichap
doaj +3 more sources
In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis
Cell Metabolism, 2011 Increased mitochondrial biogenesis by activation of PPAR- or AMPK/PGC-1α-dependent homeostatic pathways has been proposed as a treatment for mitochondrial disease. We tested this hypothesis on three recombinant mouse models characterized by defective cytochrome c-oxidase (COX) activity: a knockout (KO) mouse for Surf1, a knockout/knockin mouse for Sco2,
Carlo Viscomi +2 more
exaly +5 more sources
COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation. [PDF]
Neurol Genet, 2020 To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8.The patient was clinically investigated at 3, 5, 9, and 25 years of age.
Hedberg-Oldfors C +4 more
europepmc +4 more sources
The impact of IgG subclass deficiency on the risk of mortality in hospitalized patients with COPD
Respiratory Research, 2022 Background Immunoglobulin G (IgG) deficiency increases the risk of acute exacerbations and mortality in chronic obstructive pulmonary disease (COPD). However, the impact of IgG subclass deficiency on mortality in COPD is unknown.
Hyun Lee +7 more
doaj +1 more source
Association between Vitamin C Deficiency and Mortality in Patients with Septic Shock
Biomedicines, 2022 The prognostic value of low vitamin C levels has not been well investigated in patients with septic shock. We aimed to evaluate the association of vitamin C deficiency with mortality in patients with septic shock. We conducted a retrospective analysis of
Jong Eun Park +8 more
doaj +1 more source
COX-2/PGE2 upregulation contributes to the chromosome 17p-deleted lymphoma
Oncogenesis, 2023 Deletions of chromosome 17p, where TP53 gene locates, are the most frequent chromosome alterations in human cancers and associated with poor outcomes in patients.
Lu Qi +12 more
doaj +1 more source
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
Frontiers in Genetics, 2023 Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent isolated respiratory chain defect.
Martina Rimoldi +16 more
doaj +1 more source
Additive effects of obesity and vitamin D insufficiency on all-cause and cause-specific mortality
Frontiers in Nutrition, 2022 Obesity and vitamin D deficiency are both considered risk factors for mortality, but the potential additive effects of vitamin D status and obesity on mortality has not been well-studied.
Shuaihua Song +6 more
doaj +1 more source
NMDA-induced seizure intensity is enhanced in COX-2 deficient mice [PDF]
NeuroToxicology, 2008 Pharmacological inhibition or genetic deletion of cyclooxygenase (COX)-2, but not COX-1, has been shown to increase susceptibility to kainic acid (KA)-induced excitotoxicity. However, it is unclear if susceptibility to excitotoxins that act through other neurotransmitter receptors is altered by COX-2 inhibition. To further understand the involvement of
Christopher D, Toscano +3 more
openaire +2 more sources
Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts. [PDF]
PLoS ONE, 2016 Cytochrome-c-oxidase (COX) deficiency is a frequent cause of mitochondrial disease and is associated with a wide spectrum of clinical phenotypes. We studied mitochondrial function and biogenesis in fibroblasts derived from the Cohen (CDs) rat, an animal ...
Aviram Kogot-Levin +6 more
doaj +1 more source