Related Experiment Video

Updated: Feb 27, 2026

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

No abstract available in PubMed .

Keywords:
Calcitonin receptorDNA-methylationEnzyme replacement therapyFabry diseaseHypoxia inducing factor-1 alpha

More Related Videos

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
06:07

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors

Published on: August 5, 2022

3.2K
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

Published on: April 3, 2021

7.2K

Related Experiment Videos

Last Updated: Feb 27, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

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

Published on: December 20, 2017

8.6K
Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
06:07

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors

Published on: August 5, 2022

3.2K
Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
10:28

Direct 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 Calcitonin00:51

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...
4.9K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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

Articles linked to this work by shared authors, journal, and citation graph.

Are we back to normal? Evaluating the impact of the COVID-19 pandemic on referrals to a child protection service in a tertiary care centre in Vienna, Austria.

BMJ paediatrics open·2026

Association between nirsevimab coverage and pediatric emergency department visits for bronchiolitis in 12 European countries: An interrupted time-series analysis.

PLoS medicine·2026

Clinical Benefits Associated With Evinacumab in Pediatric Patients With Homozygous Familial Hypercholesterolemia.

Journal of the American Heart Association·2026

Familial hypercholesterolaemia in children and adolescents: a European Atherosclerosis Society consensus statement.

European heart journal·2026

MiR-182-5p, miR-122-5p and hsa-piR-28004 as indicators of disease and treatment in pediatric familial hypercholesterolemia.

Pediatric research·2026

Follow-up of suspected child maltreatment cases treated at a tertiary child protection service facility.

European journal of pediatrics·2026

A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunction.

Molecular genetics and metabolism reports·2026

Effectiveness of early initiation of idursulfase in infants and very young children with mucopolysaccharidosis II: a retrospective chart review in siblings.

Molecular genetics and metabolism reports·2026

The psychological burden of nutritional treatment in inherited metabolic disorders: Navigating daily life.

Molecular genetics and metabolism reports·2026

Severe fat embolism syndrome following minor trauma in a child with Duchenne muscular dystrophy: A case report.

Molecular genetics and metabolism reports·2026

Classic Ataxia-Telangiectasia associated with a homozygous missense ATM variant: A case report.

Molecular genetics and metabolism reports·2026

Lower blood phenylalanine concentrations may be of clinical benefit in adults with phenylketonuria.

Molecular genetics and metabolism reports·2026

Optimizing management strategies for T4b esophageal cancer: the role of TEVAR in multimodal treatment approaches.

Scandinavian journal of gastroenterology·2026

Prophylaxis Durations and Risks of Cytomegalovirus Infection and Disease in Solid Organ Transplant Recipients: An International, Multicenter Cohort Study.

Transplant infectious disease : an official journal of the Transplantation Society·2026

Australian Practical Guide on the Management of Muscle-Invasive Bladder Cancer.

Asia-Pacific journal of clinical oncology·2026

[Efficacy of bidirectional switching therapy between adrenal ablation and adrenalectomy in patients with primary aldosteronism].

Zhonghua yi xue za zhi·2026

[Analysis of efficacy and prognostic factors of neoadjuvant chemoradiotherapy in locally advanced mid-low rectal cancer patients with RAS gene mutation].

Zhonghua yi xue za zhi·2026

[Expert consensus on co-ablation therapy for the perioperative management of bone and soft tissue tumors].

Zhonghua nei ke za zhi·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us