Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Natural pentafuranosylnucleos(t)ides and their analogs: structure, functions, synthesis, and perspective of medical application [PDF]
Exploration of Drug SciencePentafuranosylnucleos(t)ides represent a class of natural compounds regulating diverse cell functions being preferably components of biopolymers and also participating as cyclic regulatory low-molecular ligands.
Dmitrii Platov +3 more
doaj +1 more source
Evaluation of technology for the biomass incineration. [PDF]
, 2010 Cílem této bakalářské práce je podat jejímu čtenáři základní informace o biomase a technologiích pro její využití. Vypracování je rozděleno do čtyř hlavních částí. První část popisuje zdroje biomasy, její úpravy a zpracování pro energetické účely.
Trna, Lukáš
core
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 +21 more
wiley +1 more source
5\u27-Terminal nucleotide variations in human cytoplasmic tRNAHisGUG and its 5\u27-halves. [PDF]
, 2017 Transfer RNAs (tRNAs) are fundamental adapter components of translational machinery. tRNAs can further serve as a source of tRNA-derived noncoding RNAs that play important roles in various biological processes beyond translation.
Kirino, Yohei, Shigematsu, Megumi
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Role of the Bifunctional Aminoacyl-tRNA Synthetase EPRS in Human Disease [PDF]
, 2020 Aminoacyl-tRNA synthetases (AARS) are a class of enzymes that catalyze the charging of tRNAs with cognate amino acids, a critical step that contributes to the fidelity of protein synthesis.
Kudlapur, Nathan
core
15N NMR study of a mixture of uniformly labeled tRNAs [PDF]
, 1982 15N NMR spectra were taken of 15N-enriched tRNA extracted from bakers yeast; ammonium sulfate was used as a nitrogen source. The increase in the degree of denaturation of tRNA, which occurs with increase in temperature from 30 degrees C to 70 degrees C ...
Birdseye, Theresa R. +3 more
core +1 more source
Advanced Materials Technologies, EarlyView.This study presents a new biodegradable coating for titanium implants using a natural antimicrobial peptide, caerin 1.9. Applied via solvent casting, the coating offers sustained antibacterial protection and promotes healing. Tested on 3D‐printed porous titanium scaffolds, it effectively prevented infection—including against resistant bacteria—while ...
Hejie Li +7 more
wiley +1 more source
How to Motivate Science Teachers to Use Science Experiments [PDF]
Journal of Systemics, Cybernetics and Informatics, 2012 A science experiment is the core tool in science education. This study describes the science teachers' professional competence to implement science experiments in teaching/learning science.
Josef Trna
doaj
Physicochemical analysis of rotavirus segment 11 supports a 'modified panhandle' structure and not the predicted alternative tRNA-like structure (TRLS) [PDF]
, 2013 .Rotaviruses are a major cause of acute gastroenteritis, which is often fatal in infants. The viral genome consists of 11 double-stranded RNA segments, but little is known about their cis-acting sequences and structural elements.
A Heerschap +47 more
core +1 more source