gene transfer in older mice with severe muscular dystrophy restores muscle function and greatly improves survival.

Muscular dystrophy is a progressive and ultimately lethal neuromuscular disease. Although gene editing and gene transfer hold great promise as therapies when administered before the onset of severe clinical symptoms, it is unclear whether these strategies can restore muscle function and improve survival in the late stages of muscular dystrophy. () mice lack expression of () and exhibit severe muscle pathophysiology, impaired mobility, and a markedly reduced life span.

Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma.

Background: α-Dystroglycan is the highly glycosylated component of the dystrophin-glycoprotein complex (DGC) that binds with high-affinity to extracellular matrix (ECM) proteins containing laminin-G-like (LG) domains via a unique heteropolysaccharide [-GlcA-beta1,3-Xyl-alpha1,3-] called matriglycan. Changes in expression of components of the DGC or in the O-glycosylation of α-dystroglycan result in muscular dystrophy but are also observed in certain cancers. In mice, the loss of either of two DGC proteins, dystrophin or α-sarcoglycan, is associated with a high incidence of rhabdomyosarcoma (RMS).

Early bases of modern embryology in Spain: microscopical anatomy and the introduction of cell theory and histology in their scientific and social European context.

We present a survey of the introduction and evolution of microscopy techniques in Spain, and the concepts and lines of research developed around this instrument, particularly in the field of Biomedical research. We cover in our article the long period from the XVII Century to the arrival of the great figure of Santiago Ramon y Cajal (1853-1934). We particularly want to mention many of the previously neglected pioneers who certainly paved the route for his discoveries and, we believe that without them, he would never have arrived to his important position in the annals of Biology and Medicine.