In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

8.0K Views

10:16 min

December 20th, 2017

DOI :

10.3791/56550-v

December 20th, 2017


Transcript

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In Vitro

Chapters in this video

0:05

Title

0:35

Site-directed Mutagenesis

1:45

Transformation and Screening for the Desired Clone

2:35

pcDNA3.1/GLA and pcDNA3.1/GAA Plasmid Transfection and Treatment of HEK293H

4:00

Cell Harvest

4:43

Homogenization by Freezing and Thawing and BCA Assay

6:17

Enzyme Activity Measurement with Artificial 4-Methylumbeliferyl Substrate

8:19

Results: Enzyme Activity Measurement Mutagenized 3 α-galactosidase and 3 Acid α-glucosidase

9:35

Conclusion

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