Alterations in membrane trafficking and pathophysiological implications in lysosomal storage disorders
EM Kuech, G Brogden, HY Naim - Biochimie, 2016 - Elsevier
Lysosomal storage disorders are a heterogeneous group of more than 50 distinct inborn
metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result
from mutations followed by functional deficiencies of enzymes or transporters within the
acidic environment of the lysosome, which mediate the degradation of a wide subset of
substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen,
oligosaccharides, peptides and glycoproteins, or the export of the respective degradation …
metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result
from mutations followed by functional deficiencies of enzymes or transporters within the
acidic environment of the lysosome, which mediate the degradation of a wide subset of
substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen,
oligosaccharides, peptides and glycoproteins, or the export of the respective degradation …