A clinical trial has demonstrated the potential of the amino acid L-serine, administered as an oral supplement, to improve the function of glutamate receptors in patients with GRINpathies.
Este modelo, creado mediante la tecnología CRISPR/Cas9, lleva la segunda mutación más común a nivel mundial en el gen PAH, conocida como c.1066-11G>A. Esta mutación afecta el splicing del ARN, el...
It has been examined whether atherosclerosis can be avoided in HGPSrev mice by suppressing progerin and restoring lamin A either in endothelial cells or in vascular smooth muscle cells, two types of c...
La revista Clinical and Molecular Hepatology se hace eco de la investigación impulsada por el Dr. Miguel Sogbe, residente de quinto año de Medicina Interna de la Clínica Universidad de Navarra, que...
It has been indicated that autosomal recessive ezrin deficiency in humans is a newly recognized genetic cause of lymphocyte deficiency affecting both cellular and humoral immunity.