Results 61 to 70 of about 431,167 (287)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs) [PDF]

, 2019
This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations.
Campofelice A., Di Leonardo A., Lentini L., Melfi R., Pace A., Pibiri I., Tutone M.   +6 more
core   +1 more source

Biomarkers of Oxidative Stress and Endogenous Antioxidants for Patients with Chronic Subjective Dizziness [PDF]

, 2020
As a neurotologic disorder of persistent non-vertiginous dizziness, chronic subjective dizziness (CSD) arises unsteadily by psychological and physiological imbalance. The CSD is hypersensitivity reaction due to exposure to complex motions visual stimuli.
Fang, Zhigang, Gil, Chang-Hyun, Huang, Keer, Jeong, Jin-Woo, Kim, Hyeong-Geug, Yoo, Ho-Ryong   +5 more
core   +1 more source

Cell wall target fragment discovery using a low‐cost, minimal fragment library

FEBS Letters, EarlyView.
LoCoFrag100 is a fragment library made up of 100 different compounds. Similarity between the fragments is minimized and 10 different fragments are mixed into a single cocktail, which is soaked to protein crystals. These crystals are analysed by X‐ray crystallography, revealing the binding modes of the bound fragment ligands.
Kaizhou Yan, Mathew Stanley, Olawale Raimi, Andrew T. Ferenbach, Helge C Dorfmueller, Daan M. F. van Aalten   +5 more
wiley   +1 more source

The landscape of hot topics and research frontiers in Kawasaki disease: Scientometric analysis

Heliyon
Purpose: Kawasaki disease(KD) is a vascular inflammatory disease that was first identified in 1967. Numerous studies have been conducted on KD and have yielded valuable recent insights.
Mengling Li, Zaiyong Zheng, Qijian Yi
doaj   +1 more source

Role of electrolyte abnormalities and unmeasured anions in the metabolic acid‐base abnormalities in dogs with parvoviral enteritis

Journal of Veterinary Internal Medicine, 2020
Background The strong ion model (SIM) is an alternative paradigm in the characterization of acid‐base disturbances particularly in complex disorders. Hypothesis/Objectives To compare the acid‐base changes in dogs with parvoviral enteritis (PE) using the ...
Richard K. Burchell, Arnon Gal, Ryan Friedlein, Andrew L. Leisewitz   +3 more
doaj   +1 more source

The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? [PDF]

, 2016
Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive
Alroy, Joseph, Anderson, Glenn W., Bras, Jose, Darwent, Lee, Faller, Kiterie M.E., Guerreiro, Rita J., Gutierrez Quintana, Rodrigo, Kun-Rodrigues, Celia, Mole, Sara E., Penderis, Jacques, Sharpe, Samuel J.   +10 more
core   +2 more sources

Structural biology of ferritin nanocages

FEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

A Multi-Institution Mixed Methods Analysis of a Novel Acid-Base Mnemonic Algorithm

Multimodal Technologies and Interaction
Acid-base analysis is a high-load diagnostic skill that many medical students struggle to master when taught using traditional text-based flowcharts. This multi-institution mixed-methods study evaluated a novel visual mnemonic algorithm that integrated ...
Camille Massaad, Harrison Howe, Meize Guo, Tyler Bland   +3 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source