Pub. Date : 2013 Dec
PMID : 24103911
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. | Gangliosides | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Homo sapiens |
| 2 | Our genetic studies identified mutations in B4GALNT1 (GM2 synthase), encoding the enzyme that catalyzes the second step in complex ganglioside biosynthesis, as the cause of this neurodegenerative phenotype. | Gangliosides | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Homo sapiens |