Related Experiment Video
Updated: Feb 27, 2026

10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
8.6K
Aberrant DNA methylation of calcitonin receptor in Fabry patients treated with enzyme replacement therapy
Anna Hübner1, Thomas Metz1, Andrea Schanzer1
1Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
Molecular Genetics and Metabolism Reports
|June 27, 2017
Abstract
No abstract available in PubMed .
Keywords:
Calcitonin receptorDNA-methylationEnzyme replacement therapyFabry diseaseHypoxia inducing factor-1 alphaMore Related Videos
06:07Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
Published on: August 5, 2022
3.2K
10:28Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
Published on: April 3, 2021
7.2K
Related Concept Videos
Synthesis and Functions of Calcitonin
4.9K
Calcitonin, a vital polypeptide hormone, regulates calcium levels within body fluids. It is released by the parafollicular cells, also known as C cells, situated in the follicular epithelium of the thyroid gland. Calcitonin responds to fluctuations in blood calcium levels and the influence of gastrointestinal hormones like gastrin and cholecystokinin.
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...
4.9K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
54
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
54