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体外
酶法检测药物陪护与庞贝氏症的反应
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Medicine
In Vitro
Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Please note that all translations are automatically generated.
Click here for the English version.
体外
酶法检测药物陪护与庞贝氏症的反应
DOI:
10.3791/56550-v
•
10:16 min
•
December 20, 2017
•
Jan Lukas
,
Anne-Marie Knospe
,
Susanne Seemann
,
Valentina Citro
,
Maria V. Cubellis
,
Arndt Rolfs
3
1
Albrecht-Kossel-Institute
,
University Rostock Medical Center
,
2
Department of Biology
,
University Federico II
,
3
Centogene AG
Chapters
00:05
Title
00:35
Site-directed Mutagenesis
01:45
Transformation and Screening for the Desired Clone
02:35
pcDNA3.1/GLA and pcDNA3.1/GAA Plasmid Transfection and Treatment of HEK293H
04:00
Cell Harvest
04:43
Homogenization by Freezing and Thawing and BCA Assay
06:17
Enzyme Activity Measurement with Artificial 4-Methylumbeliferyl Substrate
08:19
Results: Enzyme Activity Measurement Mutagenized 3 α-galactosidase and 3 Acid α-glucosidase
09:35
Conclusion
Summary
Automatic Translation
English (Original)
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Automatic Translation
有一个要求, 使临床前测试的一个新的类 "孤儿" 药物称为药理伴侣可再生, 快速, 高效。我们开发了一个简单, 高度标准化, 多功能细胞文化检测, 以筛选合格的病人以及新的药理陪护药物。
Tags
In Vitro
Enzyme Measurement
Pharmacological Chaperone
Fabry Disease
Pompe Disease
Phenotypic Assessment
Allelic Variance
Lysosomal Storage Diseases
Prognostic Outcomes
Therapeutic Decisions
Site-directed Mutagenesis
GLA Gene
GAA Gene
Primer Design
PCR
Dpn1
E.coli
Plasmid Purification
Spectrophotometer
HEK293H Cells
Cell Transfection
Article
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