Results 31 to 40 of about 14,737 (236)

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

Generation of the Camptothecin Scaffold by a Flavin‐Catalyzed Photooxidative Skeletal Reorganization

open access: yesAngewandte Chemie, EarlyView.
The biosynthetic pathway of the anticancer drug precursor camptothecin involves an enigmatic skeletal reorganization from a 6/5/6 tetrahydro‐β‐carboline to a 6/6/5 pyrroloquinoline ring system. Here, we show that this transformation can be achieved by photooxidation with flavin cofactors, such as flavin mononucleotide (FMN) as catalysts.
Shenyu Liu   +6 more
wiley   +2 more sources

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

open access: yesMolecular Genetics and Metabolism Reports, 2018
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH.
Xin Fan   +14 more
doaj   +1 more source

Morphological Perturbation of Human Erythrocytes Exposed to Photoilluminated Riboflavin [PDF]

open access: yesمجلة جامعة النجاح للأبحاث العلوم الطبيعية, 2014
Background: Reactive oxygen species (ROS) are formed as a natural byproduct of the normal metabolism of oxygen and have important roles in cell signaling and homeostasis. However, during times of oxidative stress, ROS levels can rise dramatically.
Iyad Ali, Imrana Naseem
doaj   +1 more source

Light‐Assisted 3D Printing Techniques and Photocrosslinking Strategies: Recent Advances in Musculoskeletal Tissue Engineering

open access: yesAdvanced Engineering Materials, EarlyView.
In this review, the current state of light‐assisted 3D printing as it pertains to engineering musculoskeletal tissues including bone, cartilage, skeletal muscle, tendon, and ligaments is summarized. Common printing techniques, photoreactive materials, and study design choices are compiled and reviewed.
Meagan Morgan, Bin Zhang, Roger Narayan
wiley   +1 more source

Flavin Catalysts in Organic Synthesis

open access: yesAngewandte Chemie, EarlyView.
Flavins and their congeners are potent catalysts for organic synthesis inspired by enzymatic transformations. In addition to catalysis in the flavin ground state via covalent intermediates, the excited singlet and triplet states unlock applications including photooxidation, photoreduction, and energy transfer via sensitization.
Jan Freudenberg, Golo Storch
wiley   +2 more sources

Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency

open access: yesDisease Models & Mechanisms, 2021
The cytoskeletal network plays a crucial role in the differentiation, morphogenesis, function and homeostasis of the nervous tissue, so that alterations in any of its components may lead to neurodegenerative diseases.
Alessia Niceforo   +8 more
doaj   +1 more source

Mechanism‐Driven Nanoformulations for Cognitive Impairment Induced by Intermittent Hypoxia and Periodontitis

open access: yesAdvanced Materials, EarlyView.
Clinically, intermittent hypoxia (IH) is often accompanied by periodontitis, which accelerates cognitive impairment induced by IH. Novel Janus mesoporous gold‐silica nanoformulations (RVG‐Au&mSiO2‐TPP‐VB) enable intranasal delivery, achieve hierarchical targeting to neuronal mitochondria, effectively scavenge reactive oxygen species, inhibit the HIF‐1α/
Kai‐Run Zhang   +15 more
wiley   +1 more source

3D‐Printed Corneal Substitutes: Materials, Fabrication, and Preclinical Progress

open access: yesAdvanced Materials Technologies, EarlyView.
Successful clinical translation of 3D‐printed corneal substitutes relies on the interplay between the bioink properties, cellular component, and the fabrication process. These factors influence the critical properties of the construct, including optical transparency, mechanical stability, suture retention, that ultimately govern long‐term stromal ...
Shadi Moshayedi   +4 more
wiley   +1 more source

Riboflavin transporter deficiency in young adults unmasked by dietary changes

open access: yesJIMD Reports
Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction.
Bregje Jaeger   +6 more
doaj   +1 more source

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