Around 11% of all known gene lesions causing human genetic diseases are nonsense
mutations that introduce a premature stop codon (PTC) into the protein-coding gene …

The physiological function of muscle glycogen is to meet the energy demands of muscle
contraction. The breakdown of glycogen occurs through two distinct pathways, primarily …

Organoids are self-organized, three-dimensional structures derived from stem cells that can
mimic the structure and physiology of human organs. Patient-specific induced pluripotent …

Introduction: Glycogen storage disease type III (GSDIII) is a rare genetic disease caused by
mutations in the AGL gene encoding the glycogen debranching enzyme (GDE). The …

Chimerism-based strategies represent a pioneering concept which has led to
groundbreaking advancements in regenerative medicine and transplantation. This new …

McArdle disease is a rare autosomal recessive condition caused by mutations in the PYGM
gene. This gene encodes the skeletal muscle isoform of glycogen phosphorylase or …

Neuromuscular disorders (NMDs) are a large group of diseases associated with either
alterations of skeletal muscle fibers, motor neurons or neuromuscular junctions. Most of …