BCH 261 Lecture Notes - Lecture 7: Lysosomal Storage Disease, Superoxide Dismutase, Carbamoyl Phosphate
7 Feb 2019
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Document Summary
Base specific glycosylase removes altered base and creates ap site. Brings 2 ends of dna fragments together to repair double stranded breaks. Phosphatidylinositol 2nd messenger system: gprotein receptor-when activated, exposes phospholipase c site, dag stimulates pkc. Defective nacetylglucosaminyl1phosphptransferase causes failure of phosphorylation of mannose residues thus proteins are secreted into ec instead of lysosomes coarse facies,gingivial hyperplasia, clouded corneas, restrictedrom, claw han. Pyrimidine synthesis stimulated by which metabolite of urea cycle. Glucose and hemin inhibit ala synthase and used in aip tx. Damaged dsdna repaired using complementary strand from intact homologous dsdna. Synthesis of cholesterol, bile acids, plasmalogens(imp membrane phospholipid, esp white matter of brain) Ar a oxidation; phytanic acid not metabolized to pristanic acid. Scaly skin, ataxia, cataracts or night blindness, shortening 4th toe, epiphyseal dysplasia. Ar; peroxisome biogenesis due to mutated pex genes. Xlr of b oxidation; vlcfa buildup in adrenal glands, white matter brain, testes. Dec activity of lysl oxidase creating defective collagen.
