In line with reports by Reymond and Jäger on similar structures, these amine containing basic carbasugars are potent inhibitors of β-D-galactosidases and, for the first time, could be shown to act as pharmacological chaperones for G<sub>M1</sub>-gangliosidosis-associated lysosomal acid β-galactosidase mutant R201C, thus representing a new structural type of pharmacological chaperones for this lysosomal storage disease.
A new type of pharmacological chaperone for G<sub>M1</sub>-gangliosidosis related human lysosomal β-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.
New beta-galactosidase activity detected in cell extracts of phage DNA-treated GMI-gangliosidosis fibroblasts continued to vary considerably from one experiment to another.
We identified a 1422 G-->C (amino acid W474C) substitution in the first position of exon 13 of HEXA of a non-Jewish proband who manifested a subacute variant of G(M2) gangliosidosis.
W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis.
In addition to accumulating cholesterol, NPC1-deficient cells also accumulate gangliosides and other glycosphingolipids (GSLs), and neuropathological abnormalities in NPC disease closely resemble those seen in primary gangliosidoses.
Two variants of type-ABGM2-gangliosidosis can be distinguished by using p-nitrophenyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyranoside (PNP-GlcNAc-6-SO4) as substrate.