Table 1.
Localisation
|
Degradation
|
||||||
---|---|---|---|---|---|---|---|
PLPmh | Disease severity | ER | Late endosomes and/or lysosomes | % cell-surface PLPmh | Approximate half-life (hours) | Proteosomes | Lysosomes |
wt | – | – | + | 14.9±2.4 | 6.8 | – | + |
W162L | Mild | + | + | 7.5±0.4 | 4.4 | + | + |
A242V | Severe | + | – | 0.8±0.1 | 5.6 | + | – |
G245A | Mild | + | – | 4.3±2.1 | 3.6 | + | – |