Table 1.

Summary of the localisation and degradation characteristics of the PLPmh missense mutants

		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	+	–