Results 51 to 60 of about 14,411 (293)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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   +21 more
wiley   +1 more source

Vitamin Related Coenzymes [PDF]

open access: yes, 2008
Bu ders notunda koenzim ve kofaktörlerle ilgili vitaminler, fonksiyonları, yapısal formülleri ve görev aldıkları reaksiyonlar verilmektedir.The lecture note contends vitamins which are related to coenzymes and cofactors, their functions, structural ...
ERKOC, FIGEN
core  

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

open access: yesAnnals 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   +19 more
wiley   +1 more source

Binding of coenzymes to yeast alcohol dehydrogenase [PDF]

open access: yesJournal of the Serbian Chemical Society, 2010
In this work, the binding of coenzymes to yeast alcohol dehydrogenase (EC 1.1.1.1) were investigated. The main criterions were the change in the standard free energies for individual reaction steps, the internal equilibrium constants and the overall ...
VLADIMIR LESKOVAC   +4 more
doaj  

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

open access: yesAnnals 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   +5 more
wiley   +1 more source

Testing the content of vitamin A in dietary supplements

open access: yesJournal of Education, Health and Sport, 2019
Vitamins in the human body perform regulatory functions, determine the development, health and physical performance of the body. Most of them are not synthesised in the body, therefore they must be supplied with food. They interact with enzymes, which is
Marcin Ślifirczyk   +3 more
doaj   +3 more sources

Vitamin D3 affects liver expression of pro-/anti-inflammatory cytokines and nitric oxide synthases in type 2 diabetes

open access: yesExperimental Biology and Medicine
Our objective was to study the effect of vitamin D3 (VD) on hepatocellular oxidative-nitrosative stress and pro/anti-inflammatory cytokines in relation to nitric oxide (NO) formation and NO synthase (NOS) levels in type 2 diabetes mellitus (T2DM).
Ihor Shymanskyi   +9 more
doaj   +1 more source

B Vitamins and Their Roles in Gut Health

open access: yesMicroorganisms, 2022
B vitamins act as coenzymes in a myriad of cellular reactions. These include energy production, methyl donor generation, neurotransmitter synthesis, and immune functions.
Khandkar Shaharina Hossain   +2 more
doaj   +1 more source

C1 transfer enzymes and coenzymes linking methylotrophic bacteria and methanogenic Archaea [PDF]

open access: yes, 1998
Methanogenic and sulfate-reducing Archaea are considered to have an energy metabolism involving C-1 transfer coenzymes and enzymes unique for this group of strictly anaerobic microorganisms.
Thauer, R. ; https://orcid.org/   +3 more
core   +1 more source

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