Results 31 to 40 of about 133,360 (260)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Revitalising Riboflavin: Unveiling Its Timeless Significance in Human Physiology and Health

Foods
Since the early twentieth century, research on vitamins has revealed their therapeutic potential beyond their role as essential micronutrients. Riboflavin, known as vitamin B2, stands out for its unique characteristics.
M. Ângela Aragão, Lara Pires, Celestino Santos-Buelga, Lillian Barros, Ricardo C. Calhelha   +4 more
doaj   +1 more source

Associations between Coenzyme Q10 Status, Oxidative Stress, and Muscle Strength and Endurance in Patients with Osteoarthritis

Antioxidants, 2020
Osteoarthritis (OA) causes oxidative stress. Coenzyme Q10 is an antioxidant that participates in energy production in the human body. The purpose of this study was to investigate the relationships among coenzyme Q10 status, oxidative stress, antioxidant ...
Po-Sheng Chang, Chi-Hua Yen, Yu-Yun Huang, Ching-Ju Chiu, Ping-Ting Lin   +4 more
doaj   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Role of intrinsic and supplemented antioxidants in follicular fluid: a shield against oxidative stress in oocyte health and embryo development

Journal of Applied Pharmaceutical Research
Background: In In Vitro Fertilization (IVF), a form of Assisted Reproductive Technologies (ART), the quality of oocytes and the successful development of embryos are crucial in determining the rate of fertility.
Nidhi Gairola, Himanko Gogoi, Janhvi Dubey, Jasvinder Singh Khatiyaan, Harsh Chaudhary   +4 more
doaj   +1 more source

Protein engineering of oxidoreductases utilizing nicotinamide-based coenzymes, with applications in synthetic biology

Synthetic and Systems Biotechnology, 2017
Two natural nicotinamide-based coenzymes (NAD and NADP) are indispensably required by the vast majority of oxidoreductases for catabolism and anabolism, respectively.
Chun You, Rui Huang, Xinlei Wei, Zhiguang Zhu, Yi-Heng Percival Zhang   +4 more
doaj   +1 more source

Cleavage of Coenzyme B12 by Methylmalonyl Coenzyme A Mutase

Journal of Biological Chemistry, 1973
Abstract Methylmalonyl-CoA mutase-dependent cleavage of coenzyme B12 took place in the presence of succinyl-CoA, one of the substrates of the enzyme, and in the presence of malonyl-CoA, a competitive inhibitor (Ki 0.12 mm). Other competitive inhibitors of the reaction, including acetyl-CoA, propionyl-CoA, glutaryl-CoA, and CoA itself, did not replace ...
B M, Babior, A D, Woodams, J D, Brodie
openaire   +2 more sources

Effects of Add‐On Icosapent Ethyl With Standard Treatment on Functional Outcomes and Inflammatory Biomarkers in Acute Ischemic Stroke: A Blinded Randomized Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Ischemic stroke, a major cause of mortality and long‐term disability, results from the abrupt cessation of cerebral blood flow due to vascular occlusion or rupture. Icosapent Ethyl (EPA‐EE), approved for hypertriglyceridemia, has anti‐inflammatory and antithrombotic properties that may lessen ischemic damage.
Mitra Mahmoudi Meymand, Seyed Hossein Aghamiri, Saeed Mohmammad Soleymani, Shadiyeh Bararpoor Poshkohi, Samaneh Masoudi, Hadi Esmaily   +5 more
wiley   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Evaluation of The Analgesic Activity of Coenzyme Q10 Ointment in Mice

Journal of Applied Veterinary Sciences, 2020
The aim of this study is to examine analgesic effect of Coenzyme Q10 ointment in mice. Fifteen healthy male albino mice were selected for this study. The animals were divided into three groups of five animals for each group.
Ibtisam T. Al-Jureisy, Wael T. Al-Wattar, Ghada A. Taqa   +2 more
doaj   +1 more source