Results 51 to 60 of about 470,683 (177)

Mitochondrial Disease and the Kidney With a Special Focus on CoQ(10) Deficiency [PDF]

, 2020
Contains fulltext : 229632.pdf (Publisher’s version ) (Open Access)Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation, leading to multi-organ involvement and ...
Heuvel, L.P.W.J. van den, Kar, N.C.A.J. van de, Bootsma-Robroeks, C.M.H.H.T., Schreuder, M.F., Cornelissen, E.A.M., Schijvens, A.M., Bootsma-Robroeks, Charlotte M., van de Kar, Nicole C., Cornelissen, Elisabeth A., Schijvens, Anne M., van den Heuvel, Lambertus P., Schreuder, Michiel F., Michiel F. Schreuder, Elisabeth A. Cornelissen, Lambertus P. van den Heuvel, Nicole C. van de Kar, Anne M. Schijvens, Charlotte M. Bootsma-Robroeks   +17 more
core   +1 more source

Coenzyme Q10 Supplementation in Aging and Disease

Frontiers in Physiology, 2018
Coenzyme Q (CoQ) is an essential component of the mitochondrial electron transport chain and an antioxidant in plasma membranes and lipoproteins. It is endogenously produced in all cells by a highly regulated pathway that involves a mitochondrial ...
Juan D. Hernández-Camacho, Michel Bernier, Guillermo López-Lluch, Plácido Navas   +3 more
doaj   +1 more source

Morpho‐functional analyses of the jaw apparatus in the Blue‐and‐yellow Macaw (Ara ararauna, Psittaciformes, Aves): Adaptations to feeding behavior

The Anatomical Record, EarlyView.
Abstract Macaws are renowned for processing dry, mechanically resistant fruits, yet the species‐level anatomical and functional correlates of this performance remain incompletely resolved. We examined the feeding apparatus of the Blue‐and‐yellow Macaw (Ara ararauna) using an integrated approach that combines osteology, myology, and bite‐force estimates
Sérgio R. Posso, Ana Caroline M. Barbosa, Victor R. Caciatori   +2 more
wiley   +1 more source

Mitochondrial disease associated with complex I (NADH‐CoQ oxidoreductase) deficiency [PDF]

Journal of Inherited Metabolic Disease, 2014
AbstractMitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant. In a large proportion of cases the problem can be traced to a complex I (NADH‐CoQ oxidoreductase) deficiency (Phenotype MIM #252010).
openaire   +4 more sources

The Coq Proof Assistant, version 8.7+beta2.

, 2017
<p>Coq 8.7 includes:</p> <ul> <li>A large amount of work on cleaning and speeding up the code base, notably the work of Pierre-Marie Pédrot on making the tactic-level system insensitive to existential variable expansion ...
The Coq Development Team (8320326), Coq Development Team, The, The Coq Development Team   +2 more
core   +1 more source

Detection of 6-demethoxyubiquinone in CoQ deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

, 2017
Coenzyme Q (CoQ) is an essential cofactor of the mitochondrial oxidative phosphorylation (OXPHOS) system and its deficiency has important implications for several inherited metabolic disorders of childhood.
Herebian, Diran;Seibt, Annette;Smits, Sander H J;Bünning, Gisela;Freyer, Christoph;Prokisch, Holger;Karall, Daniela;Wredenberg, Anna;Wedell, Anna;López, Luis C;Mayatepek, Ertan;Distelmaier, Felix
core   +2 more sources

Coenzyme Q in the Treatment of Mitochondrial Disease

Journal of Inborn Errors of Metabolism and Screening, 2017
Currently, there is a paucity of available treatment strategies for oxidative phosphorylation disorders. Coenzyme Q 10 (CoQ 10 ) and related synthetic quinones are the only agents to date that have proven to be beneficial in the treatment of these ...
Viruna Neergheen MSc, Annapurna Chalasani MSc, Luke Wainwright MSci, MRes, Delia Yubero PhD, Raquel Montero PhD, Rafael Artuch MD, PhD, Iain Hargreaves PhD   +6 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Regional Mitochondrial Density Maps Selective Posterior Atrophy in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Mitochondrial dysfunction has been implicated in the pathobiology of Parkinson's disease (PD), yet the spatial relationship between regional energetic demand and patterns of neurodegeneration remains poorly understood, limiting mechanistic insight and development of disease‐modifying therapies.
Ajay Konuri, Lachlan Churchill, Jack Anderson, Anna Ignatavicius, Glenda Halliday, Ramon Landin‐Romero, Simon J.G. Lewis, Elie Matar   +7 more
wiley   +1 more source

4‐Hydroxybenzoic acid restores CoQ ₁₀ biosynthesis in human COQ 2 deficiency [PDF]

Annals of Clinical and Translational Neurology, 2017
Abstract The clinical phenotypes of human CoQ 10 ‐deficiency caused by COQ2 mutations range from fatal neonatal disease to adult‐onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory.
Herebian, D., Seibt, A., Smits, S.H.J., Rodenburg, R.J.T., Rodenburg, R.J.T., Rodenburg, R.J.T., Mayatepek, E., Distelmaier, F.   +7 more
openaire   +4 more sources