Title : Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.

Pub. Date : 2015 Feb 20

PMID : 25600812






3 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 GM1 gangliosidosis is caused by mutations in the GLB1 gene that encodes beta-galactosidase. G(M1) Ganglioside galactosidase beta 1 Homo sapiens
2 GM1 gangliosidosis is caused by mutations in the GLB1 gene that encodes beta-galactosidase. G(M1) Ganglioside galactosidase beta 1 Homo sapiens
3 A lack of beta-galactosidase activity leads to the massive accumulation of GM1 ganglioside, which results in neurodegenerative pathology. G(M1) Ganglioside galactosidase beta 1 Homo sapiens