EC Number |
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3.2.1.46 | - |
3.2.1.46 | a specific neurologically relevant murine cell-line (145M-Twi) is modified to express common human hGALC-G270D mutant |
3.2.1.46 | expression in CHO cells |
3.2.1.46 | expression in lentiviral GALC vectors |
3.2.1.46 | expression vectors for different fusion-proteins are constructed: GALC, unmodified enzyme, GALC-MH: fusion protein containing a C-terminal myc-tag and six His residues, GALC-TMH: fusion protein containing in addition a Tat-PTD, the protein transduction domain derived from the HIV-1 Tat protein |
3.2.1.46 | exression in lentiviral GALC vectors |
3.2.1.46 | mutation in Krabbe disease |
3.2.1.46 | Newborn screening for Krabbe's disease, several variants in confirmed patients are identified. In some cases, polymorphisms is seen in cis with these variants. These variants are expressed in COS1 cells |
3.2.1.46 | nonsense mutation in Krabbe disease |