Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has
been known for over 75 years. While an optimist might be excited about the advances made …

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 …

Lysosomal acidification is a key feature of healthy cells. Inability to maintain lysosomal acidic
pH is associated with aging and neurodegenerative diseases. However, the mechanisms …

Matrix assisted laser desorption/ionization imaging has greatly improved our understanding
of spatial biology, however a robust bioinformatic pipeline for data analysis is lacking. Here …

Pompe disease (glycogen storage disease type II) is caused by mutations in acid α-
glucosidase (GAA) resulting in lysosomal pathology and impairment of the muscular and …

Glycogen storage disorders (GSDs) are inherited disorders of metabolism resulting from the
deficiency of individual enzymes involved in the synthesis, transport, and degradation of …

Hepatocyte-restricted, AAV-mediated gene transfer is being used to provide sustained,
tolerogenic transgene expression in gene therapy. However, given the episomal status of …

The neuromuscular junction (NMJ) is a specialized cholinergic synaptic interface between a
motor neuron and a skeletal muscle fiber that translates presynaptic electrical impulses into …

Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal
enzyme acid-alpha glucosidase (GAA). Pathogenic variants in the GAA gene lead to …

Glycogen is a biologically essential macromolecule that is directly involved in multiple
human diseases. While its primary role in carbohydrate storage and energy metabolism in …