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
Fluorescence Modulation of Green Fluorescent Protein Using Fluorinated Unnatural Amino Acids
The ability to modulate protein function through minimal perturbations to amino acid structure represents an ideal mechanism to engineer optimized proteins.
Jordan K. Villa +7 more
doaj +1 more source
d-Amino acids do not inhibit biofilm formation in Staphylococcus aureus. [PDF]
Bacteria can either exist in the planktonic (free floating) state or in the biofilm (encased within an organic framework) state. Bacteria biofilms cause industrial concerns and medical complications and there has been a great deal of interest in the ...
Sourav Sarkar, Marcos M Pires
doaj +1 more source
Membrane glycomics reveal heterogeneity and quantitative distribution of cell surface sialylation. [PDF]
Given that unnatural sugar expression is metabolically achieved, the kinetics and disposition of incorporation can lend insight into the temporal and localization preferences of sialylation across the cell surface.
Haigh, Nathan E +9 more
core
Design, synthesis and characterization of linear unnatural amino acids for skin moisturization [PDF]
Objectives This work aimed to design, synthesize and characterize replacement natural moisturizing factor (NMF) composed of modified hygroscopic linear amino acids to pre-empt or repair skin barrier dysfunction.
Burke R.C. +6 more
core +2 more sources
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
A Stereochemical Test of a Proposed Structural Feature of the Nicotinic Acetylcholine Receptor [PDF]
Understanding the gating mechanism of the nicotinic acetylcholine receptor (nAChR) and similar channels constitutes a significant challenge in chemical neurobiology.
Dougherty, Dennis A. +2 more
core
Tyrosine decaging leads to substantial membrane trafficking during modulation of an inward rectifier potassium channel [PDF]
Tyrosine side chains participate in several distinct signaling pathways, including phosphorylation and membrane trafficking. A nonsense suppression procedure was used to incorporate a caged tyrosine residue in place of the natural tyrosine at position ...
Brandt, Gabriel S. +7 more
core +3 more sources
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Through this work we are developing our research involving the formation of arynes from 2-(trimethylsilyl)aryl triflates, under relatively mild reaction conditions.
Danilo Y. Albuquerque +2 more
doaj +1 more source

