الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
Lysosomes are membrane-bound vesicles that contain digestive enzymes, such as glucosidases, proteases, and sulfatases. These enzymes are synthesized in the endoplasmic reticulum, transported to the Golgi apparatus, and tagged for lysosomes by the addition of the mannose-6-phosphate label. The synthesis of lysosomal enzymes is controlled by nuclear genes. Mutations in these genes are responsible for different human genetic disorders, which are collectively known as lysosomal storage diseases. (De Duve, 2005; Linhart & Elliott, 2007; Sabatini & Adesnik, 2013) Lysosomal storage disorders (LSD) comprise a group of more than 50 diseases caused by a deficiency of lysosomal enzymes, membrane transporters, or other proteins involved in lysosomal biology. Individually, LSDs are rare, but overall, their incidence has been estimated as 1 in 7000 to 1 in 8000 live births. Most LSDs are characterized by a progressive course, often resulting in severe disease manifestations and early death. (Winchester et al., 2000; Kolter & Sandhoff, 2005; Fuller et al., 2006; Linhart & Elliott, 2007; Coutinho et al., 2012)