Cathepsins (CTSs) are ubiquitously expressed proteases normally found in the
endolysosomal compartment where they mediate protein degradation and turnover …

Lysosomal Storage Disorders (LSDs), also known as lysosomal diseases (LDs) are a group
of serious genetic diseases characterized by not only the accumulation of non-catabolized …

Background Unlike humans, there is currently no publicly available reference mass
spectrometry-based circulating acellular proteome data for sheep, limiting the analysis and …

Mucolipidosis type II, also known as I-cell disease, is an autosomal recessive inborn error of
metabolism, resulting from loss-of-function mutations in GNPTAB. Affected infants exhibit …

Many of the so-called inborn errors of metabolism, the storage diseases, produce inclusions
or vacuoles in the tissues of affected individuals. The placenta is often similarly involved …

The incidence of inherited errors of metabolism ranges from 1 in 50,000 to 1 in 150,000.
Although any given inborn error of metabolism is very rare, taken as a group, inborn errors …

Galactosialidosis is a rare neurode generative lysosomal storage disease (LSD) affecting
glycoprotein catabolism. Galactosialidosis belongs to the subgroup of LSDs that comprises …

Galactosialidosis (GS) is a rare lysosomal storage disorder. We reported here, the case of a
29-day-old boy who had increased body swelling, difficulty breathing, and petechiae on the …

Mongolian spots are common benign skin marks present at birth, which are hereditary or
developmental in nature1. However, extensive Mongolian spots involving large areas of the …

The multiprotein complex includes the protective cathepsin A protein in which mutations
lead to galactosialidosis. All patients with galactosialidosis have foam cells in the marrow …