Biology 2382B Lecture Notes - Familial Hypercholesterolemia, Autophagosome, Phagocytosis
12 Feb 2014
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Document Summary
Lysosomal storage diseases are caused by the absence of one or more lysosomal enzymes resulting in the accumulation of undegraded material in lysosomes: one of the most severe types of lysosomal storage disease is inclusion-cell ( i-cell disease. It is caused by the absence of n-acetylglucosamine (glcnac) phosphotransferase, which is required for phosphorylating enzymes bound for the lysosome (that carry the. M6p signal): thus, lysosomal enzymes are secreted rather than being sorted to the lysosomes, resulting in undigested glycolipids (normally degraded by lysosomal enzymes) accumulating in the lysosomes. Lysosomal storage diseases typically have a fatal outcome early on in childhood. Molecules involved with receptor-mediated endocytosis include ldl cholesterol, transferrin, hormones, and glycolipids. Low-density lipoprotein (ldl): low-density lipoprotein (composed of a phospholipid monolayer, cholesterol and protein) with a hydrophobic core (mostly cholesteryl esters) as the general structure. ), which appears to wrap around: receptors in the plasma membrane recognize ldl as a unique ligand.
