Abstract
Fabry disease is an X chromosome linked disorder caused by the inherited deficiency of lysosomal enzyme - galactosidase A. The deficiency results in abnormal degradation of certain glycosphingolipids. Although the disease is known for more than hundred years and the underlying molecular basis is getting to be well defined, there are still a lot of unanswered questions regarding the different clinical presentations, available diagnostic procedures and therapeutic interventions. The scope of the article is to review the molecular basis of Fabry disease and summarize the available data about Fabry disease cardiomyopathy, highlight the controversies of current knowledge and evaluate future research directions.
Keywords: Cardiomyopathy, chaperone, enzyme replacement therapy, Fabry disease, glycosphingolipids, sphingolipidosis
Current Pharmaceutical Biotechnology
Title:Fabry Disease Cardiomyopathy: from Genes to Clinical Manifestations
Volume: 13 Issue: 13
Author(s): Attila Bela Kertesz and Istvan Edes
Affiliation:
Keywords: Cardiomyopathy, chaperone, enzyme replacement therapy, Fabry disease, glycosphingolipids, sphingolipidosis
Abstract: Fabry disease is an X chromosome linked disorder caused by the inherited deficiency of lysosomal enzyme - galactosidase A. The deficiency results in abnormal degradation of certain glycosphingolipids. Although the disease is known for more than hundred years and the underlying molecular basis is getting to be well defined, there are still a lot of unanswered questions regarding the different clinical presentations, available diagnostic procedures and therapeutic interventions. The scope of the article is to review the molecular basis of Fabry disease and summarize the available data about Fabry disease cardiomyopathy, highlight the controversies of current knowledge and evaluate future research directions.
Export Options
About this article
Cite this article as:
Bela Kertesz Attila and Edes Istvan, Fabry Disease Cardiomyopathy: from Genes to Clinical Manifestations, Current Pharmaceutical Biotechnology 2012; 13 (13) . https://dx.doi.org/10.2174/1389201011208062477
DOI https://dx.doi.org/10.2174/1389201011208062477 |
Print ISSN 1389-2010 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4316 |
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
Related Articles
-
Recombinant Human Insulin-Like Growth Factor-1: A New Cardiovascular Disease Treatment Option?
Cardiovascular & Hematological Agents in Medicinal Chemistry Hydrogels: A Journey from Diapers to Gene Delivery
Mini-Reviews in Medicinal Chemistry Diabetes and Complications: Cellular Signaling Pathways, Current Understanding and Targeted Therapies
Current Drug Targets Hypertension in Type 2 Diabetes Mellitus: Do We Need to Redefine the Role of Sulfonylureas?
Recent Advances in Cardiovascular Drug Discovery (Discontinued) Mitochondrial and Nuclear Genes of Mitochondrial Components in Cancer
Current Genomics Neopterin: From Forgotten Biomarker to Leading Actor in Cardiovascular Pathophysiology
Current Vascular Pharmacology The Heart in Sepsis: From Basic Mechanisms to Clinical Management
Current Vascular Pharmacology Revised Genetic Classification of Limb Girdle Muscular Dystrophies
Current Molecular Medicine Mitochondria, Cellular Stress Resistance, Somatic Cell Depletion and Lifespan
Current Aging Science Hyperphosphorylation of Microtubule-Associated Protein Tau: A Promising Therapeutic Target for Alzheimer Disease
Current Medicinal Chemistry Mitochondrial Tolerance to Drugs and Toxic Agents in Ageing and Disease
Current Drug Targets Antidiabetic Potential of Naturally Occurring Sesquiterpenes: A Review
Current Topics in Medicinal Chemistry Biological Activities of Receptor-interacting Protein 140 in Adipocytes and Metabolic Diseases
Current Diabetes Reviews Genetic Privacy in Sports: Clearing the Hurdles
Recent Patents on DNA & Gene Sequences Tracking Stem Cell Therapy in the Myocardium: Applications of Positron Emission Tomography
Current Pharmaceutical Design Unconventional Players on the Striated Muscle Field: microRNAs, Signaling Pathways and Epigenetic Regulators
Current Stem Cell Research & Therapy Diabetes and Vascular Disease: Is It All About Glycemia?
Current Pharmaceutical Design Electrochemical Study of DNA Damaged by Oxidation Stress
Combinatorial Chemistry & High Throughput Screening Cellular Cardiomyoplasty and Cardiac Regeneration
Current Cardiology Reviews Prevention of Sudden Cardiac Death in Hemodialysis Patients
Cardiovascular & Hematological Disorders-Drug Targets