Results 31 to 40 of about 14,378 (296)

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

Annals 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, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

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

B Vitamins and Their Roles in Gut Health

Microorganisms, 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, Sathya Amarasena, Shyamchand Mayengbam   +2 more
doaj   +1 more source

Separation and Identification of Folate Coenzymes on DEAE-Sephadex

, 1971
The separation of naturally occurring folates is achieved by column chromatography on DEAE-cellulose (diethylaminoethyl-C) and on TEAE-cellulose (triethylaminoethyl-C), and the separated fractions are quantitated and identified by microbiological assay ...
Bertino, J. R., P.F. Nixon, Nixon, P. F., J.R. Bertino   +3 more
core   +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

Testing the content of vitamin A in dietary supplements

Journal 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, Barbara Jędrzejewska, Anna Ślifirczyk, Grażyna Denisiuk   +3 more
doaj   +3 more sources

Binding of coenzymes to yeast alcohol dehydrogenase [PDF]

Journal 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, SVETLANA TRIVIĆ, DRAGINJA PERIČIN, MIRA POPOVIĆ, JULIJAN KANDRAČ   +4 more
doaj  

Advancing Lithium–Oxygen Batteries: Pioneering Cathode Catalyst Innovation and Artificial Intelligence‐Driven Design Paradigms

Advanced Materials, EarlyView.
This review summarizes the principles and challenges of nonaqueous lithium‐oxygen batteries and recent advances in cathode catalysts, including carbon‐based materials, metals, oxides, sulfides, nitrides, carbides, and redox mediators. It highlights emerging design strategies and artificial intelligence‐driven approaches, emphasizing data‐assisted ...
Yuqing Yao, Chongyang Hao, Karol Viviana Mejia‐Centeno, Malik Dilshad Khan, Shang Wang, Longqiu Li, Yanhong Tian, Andreu Cabot, Qing Sun   +8 more
wiley   +1 more source

CSAKD: Determining Absolute Ligand Affinities From 19F NMR Chemical Shift Anisotropy

Angewandte Chemie, EarlyView.
Affinity determination is crucial in drug discovery, yet remains difficult for weakly binding fragments. We introduce chemical shift anisotropy KD$K_{\text{D}}$ (CSAKD) by 19F$^{19}{\rm F}$ NMR relaxation experiments, a titration‐free method that requires no isotopic labeling.
Simon H. Rüdisser, Gabriela Stadler, Alvar D. Gossert   +2 more
wiley   +2 more sources

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

Experimental 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, Olha Lisakovska, Mykola Veliky, Olha Mezhenska, Vasyl Bilous, Andrii Siromolot, Anna Khomenko, Dmytro Labudzynskyi, Tetyana Horid’ko, Elvira Pasichna   +9 more
doaj   +1 more source