clinical consequences

Question 1

what kind of lysosomal storage diseases exist?

Answer 1

1 genetic diseases, often with neurological defects and mental retardation, skeletal deformities, shortened life span
2 defective degradation, abnormal accumulation of products targeted to lysosomes

Question 2

many lysosomal storage diseases are..

Answer 2

single enzyme deficiencies

Question 3

what does lysosomal disease mucopolysaccharidosis II have?>

Answer 3

GlcNAc-phosphotrabnsferase defect, so many lysosomal enzymes cannot be tarteted

Question 4

what mediates trafficking through the endocytic pathway and traffic control?

Answer 4

the molecular machinery of the cell

Question 5

what does multidirectional trafficking through the TGN, lysosomes, endosomes and PM promote?

Answer 5

active exchange and recycling among compartments

Question 6

what complexes initiate clathrin assembly onto the membrane?

Answer 6

the AP/adaptin complexes

Question 7

what does the formation of clathrin coated pits and vesicles cause?

Answer 7

regional clustering of associated receptors, and leads to efficient internalization through receptor-mediated endocytosis

Question 8

COPII goes from what to what? COPI?

Answer 8

II from Rough ER to cGN. COPI goes from TG to MG to CG to RER.

Question 9

what coats endocytosis

Answer 9

clathrin coated vesicles

Question 10

what is triskelion structure made of?

Answer 10

heavy chain, light chain and binding site for assembly particles