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In Vitro Enzym måling til Test farmakologiske anstandsdame lydhørhed i Fabry og Pompe sygdom
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzym måling til Test farmakologiske anstandsdame lydhørhed i Fabry og Pompe sygdom

DOI:
10.3791/56550-v

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10:16 min

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December 20, 2017

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, , , , ,
1Albrecht-Kossel-Institute,University Rostock Medical Center, 2Department of Biology,University Federico II, 3Centogene AG

Chapters

  • 00:05Title
  • 00:35Site-directed Mutagenesis
  • 01:45Transformation and Screening for the Desired Clone
  • 02:35pcDNA3.1/GLA and pcDNA3.1/GAA Plasmid Transfection and Treatment of HEK293H
  • 04:00Cell Harvest
  • 04:43Homogenization by Freezing and Thawing and BCA Assay
  • 06:17Enzyme Activity Measurement with Artificial 4-Methylumbeliferyl Substrate
  • 08:19Results: Enzyme Activity Measurement Mutagenized 3 α-galactosidase and 3 Acid α-glucosidase
  • 09:35Conclusion

Summary

Automatic Translation

Automatic Translation

Der er et krav til præ-klinisk test for en ny klasse af "sjældne" lægemidler kaldet farmakologiske chaperoner reproducerbar, hurtig og effektiv. Vi udviklet en enkel, meget standardiserede og alsidig celle kultur-baseret analyse til skærmen for støtteberettigede patienter samt roman farmakologiske anstandsdame lægemidler.

Tags

In VitroEnzyme MeasurementPharmacological ChaperoneFabry DiseasePompe DiseasePhenotypic AssessmentAllelic VarianceLysosomal Storage DiseasesPrognostic OutcomesTherapeutic DecisionsSite-directed MutagenesisGLA GeneGAA GenePrimer DesignPCRDpn1E.coliPlasmid PurificationSpectrophotometerHEK293H CellsCell Transfection

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