Results 41 to 50 of about 470,683 (177)
EMBO Molecular Medicine, 2015 Primary coenzyme Q10 (CoQ10) deficiency is due to mutations in genes involved in CoQ biosynthesis. The disease has been associated with five major phenotypes, but a genotype–phenotype correlation is unclear.
Marta Luna‐Sánchez +9 more
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Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ(10) deficiency [PDF]
, 2010 Coenzyme Q(10) (CoQ(10)) is essential for electron transport in the mitochondrial respiratory chain and antioxidant defense. The relative importance of respiratory chain defects, ROS production, and apoptosis in the pathogenesis of CoQ(10) deficiency is ...
GILKERSON RW +30 more
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Characterization of a Plasmodium falciparum Orthologue of the Yeast Ubiquinone-Binding Protein, Coq10p. [PDF]
PLoS ONE, 2016 Coenzyme Q (CoQ, ubiquinone) is a central electron carrier in mitochondrial respiration. CoQ is synthesized through multiple steps involving a number of different enzymes.
Bethany J Jenkins +5 more
doaj +1 more source
The Coq Library of Undecidability Proofs: Hilbert's Tenth problem in Coq (LMCS) v1.1
, 2021 Hilbert's Tenth problem in Coq Dominique Larchey-Wendling dominique.larchey-wendling@loria.fr, Yannick Forster forster@ps.uni-saarland.de This repository contains the Coq formalisation of the paper "Hilbert's tenth problem in Coq", submitted as a ...
Yannick Forster +11 more
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A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options
Molecular Genetics and Metabolism Reports, 2022 Coenzyme Q10 (CoQ10) is necessary as electron transporter in mitochondrial respiration and other cellular functions. CoQ10 is synthesized by all cells and defects in the synthesis pathway result in primary CoQ10 deficiency that frequently leads to severe
Ying Wang, Evren Gumus, Siegfried Hekimi
doaj +1 more source
β‐RA reduces DMQ/CoQ ratio and rescues the encephalopathic phenotype in Coq9R239X mice
EMBO Molecular Medicine, 2018 Coenzyme Q (CoQ) deficiency has been associated with primary defects in the CoQ biosynthetic pathway or to secondary events. In some cases, the exogenous CoQ supplementation has limited efficacy.
Agustín Hidalgo‐Gutiérrez +11 more
doaj +1 more source
MITOCHONDRIAL NADH-CoQ OXIDOREDUCTASE (COMPLEX I) DEFICIENCY IN MAN [PDF]
Pediatric Research, 1987 Two brothers, aged 11 and 13 years, have seizures, growth and developmental delay and intellectual regression. Physical findings include mild facial coarseness, bilateral ptosis, sensorineural hearing loss, hypotonia, weakness, incoordination, and hyporeflexia. Their mother has late onset sensorineural hearing loss but is otherwise normal.
William J Rhead +3 more
openaire +1 more source
Clinical Medicine Insights: Case Reports, 2023 Background: Primary deficiency of coenzyme Q 10 deficiency-4 (CoQ 10 D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia.
Mahsa Hojabri +4 more
doaj +1 more source
, 2018 <p>Coq version 8.8 contains the result of refinements and stabilization of features and deprecations, cleanups of the internals of the system along with a few new features.</p> <p>Summary of changes</p> <ul> <li> ...
The Coq Development Team (8320326) +2 more
core +1 more source
, 2019 Coq is a formal proof management system. It provides a formal language to write mathematical definitions, executable algorithms and theorems together with an environment for semi-interactive development of machine-checked proofs.
The Coq Development Team (8320326) +1 more
core +1 more source