Pompe disease, also known as glycogen storage disease type II, is caused by the lack or
deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac …

Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in
the gene encoding acid α-glucosidase (GAA)(EC 3.2. 1.20), the enzyme responsible for …

Organ regeneration requires dynamic cell interactions to reestablish cell numbers and tissue
architecture. While we know the identity of progenitor cells that replace lost tissue, the …

Background Respiratory tract microbial dysbiosis can exacerbate inflammation and
conversely inflammation may cause dysbiosis. Dysbiotic microbiome metabolites may lead …

Pompe disease is an autosomal recessive glycogen storage disorder caused by deficiency
of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in systemic …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that results in death
from respiratory failure. No cure exists for this devastating disease, but therapy that directly …

Bitter taste receptors (TAS2Rs) and their signaling elements are detected throughout the
body, and bitter tastants induce a wide variety of biological responses in tissues and organs …

Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase
(GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in …

Lysosomal storage disorders (LSDs) are multisystemic, progressive and clinically very
heterogeneous. Respiratory complications are not regarded as the principal problems of …

Introduction Pompe disease is an autosomal recessive disorder caused by a deficiency of
acid-α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. A …