Pub. Date : 2014 May 23
PMID : 24737316
4 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | In this report, we describe the enzymological properties of purified recombinant human beta-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, beta-Gal(R201C) and beta-Gal(I51T). | G(M1) Ganglioside | galactosidase beta 1 | Homo sapiens |
| 2 | GM1 gangliosidosis and Morquio B disease are autosomal recessive diseases caused by the defect in the lysosomal beta-galactosidase (beta-Gal), frequently related to misfolding and subsequent endoplasmic reticulum-associated degradation. | G(M1) Ganglioside | galactosidase beta 1 | Homo sapiens |
| 3 | GM1 gangliosidosis and Morquio B disease are autosomal recessive diseases caused by the defect in the lysosomal beta-galactosidase (beta-Gal), frequently related to misfolding and subsequent endoplasmic reticulum-associated degradation. | G(M1) Ganglioside | galactosidase beta 1 | Homo sapiens |
| 4 | In this report, we describe the enzymological properties of purified recombinant human beta-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, beta-Gal(R201C) and beta-Gal(I51T). | G(M1) Ganglioside | galactosidase beta 1 | Homo sapiens |