Supplementary Table 158–1. Defects of Cargo Sorting and Vesicle ...

Mucolipidosis II (I-cell
disease; 252500)
Mucolipidosis IIIA
(classical Pseudo-
Hurler poly-dystrophy;
252600)
Mucolipidosis IIIC
(variant Pseudo-Hurler
polydystrophy; 252605)
Lowe
oculocerebrorenal
syndrome
(309000)
and 3 (DTNBP1
encoding dysbindin,
BLOC1S3; HPS3, HPS5,
HPS6; HPS1, HPS4)
N-acetylglucosamine-1-
phosphotransferase,
catalyses formation of
mannose 6-phosphate on
lysosomal prot., α/β-
subunits (GNPTAB)
γ-subunit (GNPTAG)
OCRL1, PtdIns(4,5)P2 5-
phosphatase localized to
the trans-Golgi network,
early endosomes, and
clathrin-coated vesicles
(OCRL1)
Retarded psychomotor
development,
visceral and skeletal
involvement with
lysosomal deposition of
undegraded material
Developmental disorder
with congenital cataracts,
renal tubular dysfunction
and neurological deficits
Leakage of lysosomal hydrolases
from cells due to lack of
mannose-6-phosphate targeting
signal; Lysosomal accumulation
of undegraded macromolecules
Secretion of lysosomal
hydrolases; Abnormalities of the
actin cytoskeleton;
Accumulation of PtdIns(4,5)P2 ;
Defective protein trafficking
between trans-Golgi network
and endosomes
Pietro and Dell’Angelica,
2005; Gautam et al., 2006;
Wei, 2006)
Raas-Rothschild et al.,
2000, 2004; Tiede et al.,
2005; Kudo et al., 2006
Attree et al., 1992; Suchy
et al., 1995; Zhang et al.,
1995; Ungewickell et al.,
2004; Choudhury et al.,
2005; Halstead et al.,
2005; Lowe, 2005; Hyvola
et al., 2006;