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Gaucher Disease
lysosomal storage disease
Mutation in beta-glucocerebrosidase → which is an enzyme responsible for breaking down lipids
excess of lipids leads to bone breakdown
Endocytosis
An active transport process where cels absorb large molecules, fluids, or pathogens by engulfing them with their plasma membrane
Pinocytosis
type of Endocytosis
“Cell drinking”
small vesicles
completely indiscriminate → takes in everything in fluid
Macropinocytosis
type of Endocytosis
Larger vesicle
Get rid of Red blood cells
Indiscriminate → takes everything in fluid

Clathrin associated receptor mediated endocytosis
type of Endocytosis
Specific receptors for cargo into and within a cell
100-150nm

Caveolae
type of Endocytosis
Little caves → 50-80 nm
important in endothelial cells

Phagocytosis
type of Endocytosis
“Cell eating”
Large vesicles
Consume Microorganisms and cell debris

early endosome, late endosome, lysosome
endocytosis path way
Clathrin
Forms triskeleton structure (3 legs) → forms a closed cage
heavy chain, light chain, binding site for assembly particles

1000 fold concentration of clathrinCholesterol, vitamine b12, iron, viruses - influenzA, SARS-cov
1000 fold concentration of clathrin
golgi apparatus, lysosome
what is the origin and destination of Clathrin + adaptin 1
plasma membrane, endosomes
what is the origin and destination of Clathrin + adaptin 2
ER, Golgi cisterna, Golgi apparatus
what is the origin and destination of COP proteins?
Transferrin (Tfn)
Does not disassociate from its receptor
LDL
This cargo dissassociates quickets (in endosome) from receptor at pH 6.5
it’s receptor goes back to plasma membrane
Iron
Dissociates quickly rom transferring (pH 6) → recycles back to plasma membrane
MPR
In late endosome, it dissociates from the receptors and receptor travels back to goligi to pick up _____ proteins
EGF
stays bound to its receptor and gets transferred in lysosome; receptor and _____ both get degraded in the lysosome
M6P
protects lysosomal enzymes from being broken down
synthesized in golgi
envelopment, sealing, merging with lysosome, residual body
Stages of autophagy