The rapid development of genome editing technology has brought major breakthroughs in
the fields of life science and medicine. In recent years, the clustered regularly interspaced …

Pompe disease is an inherited neuromuscular disorder caused by deficiency of the
lysosomal enzyme acid alpha-glucosidase (GAA). The most severe form is infantile-onset …

Translational medicine aims to improve human health by exploring potential treatment
methods developed during basic scientific research and applying them to the treatment of …

The field of drug discovery is continually advancing with the emergence of new technologies
and scientific developments. Moreover, there is a recent growing interest in exploiting …

Objective Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-
glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy …

GSD are a group of disorders characterized by a defect in gene expression of specific
enzymes involved in glycogen breakdown or synthesis, commonly resulting in the …

Programmable nucleases, such as zinc finger nucleases (ZFNs), transcription activator-like
effector nucleases (TALENs), and clustered regularly interspaced short palindromic repeats …

Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-
glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal …

Background: Heart failure involves metabolic alterations including increased glycolysis
despite unchanged or decreased glucose oxidation. The mitochondrial pyruvate carrier …

Genome editing has multiple applications in the biomedical field. They can be used to
modify genomes at specific locations, being able to either delete, reduce, or even enhance …