Abstract
Pompe disease or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, gait abnormalities, or even death by respiratory failure. In the last decade, autophagy has been proposed as a mechanism involved in the severity of symptoms related to this disorder and as a potential therapeutic target to alleviate disease progression. This review summarizes the relationship between autophagy and Pompe disease, including what information has been recently discovered and what remains unclear.
Keywords: Autophagy, Glycogen synthase, LC3, Lysosomes, Pompe disease, Recombinant human GAA.
Current Medicinal Chemistry
Title:Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?
Volume: 23 Issue: 21
Author(s): M. Rodríguez-Arribas, J. M. Bravo-San Pedro, R. Gómez-Sánchez, S. M.S. Yakhine-Diop, G. Martínez-Chacón, E. Uribe-Carretero, D. C.J. Pinheiro De Castro, I. Casado-Naranjo, A. López de Munaín, M. Niso-Santano, J. M. Fuentes and R. A. González-Polo
Affiliation:
Keywords: Autophagy, Glycogen synthase, LC3, Lysosomes, Pompe disease, Recombinant human GAA.
Abstract: Pompe disease or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, gait abnormalities, or even death by respiratory failure. In the last decade, autophagy has been proposed as a mechanism involved in the severity of symptoms related to this disorder and as a potential therapeutic target to alleviate disease progression. This review summarizes the relationship between autophagy and Pompe disease, including what information has been recently discovered and what remains unclear.
Export Options
About this article
Cite this article as:
Rodríguez-Arribas M., Pedro M. Bravo-San J., Gómez-Sánchez R., Yakhine-Diop M.S. S., Martínez-Chacón G., Uribe-Carretero E., Castro C.J. Pinheiro De D., Casado-Naranjo I., Munaín López de A., Niso-Santano M., Fuentes M. J. and González-Polo A. R., Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?, Current Medicinal Chemistry 2016; 23 (21) . https://dx.doi.org/10.2174/1567201812666150122131046
DOI https://dx.doi.org/10.2174/1567201812666150122131046 |
Print ISSN 0929-8673 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-533X |
Call for Papers in Thematic Issues
Advances in Medicinal Chemistry: From Cancer to Chronic Diseases.
The broad spectrum of the issue will provide a comprehensive overview of emerging trends, novel therapeutic interventions, and translational insights that impact modern medicine. The primary focus will be diseases of global concern, including cancer, chronic pain, metabolic disorders, and autoimmune conditions, providing a broad overview of the advancements in ...read more
Approaches to the treatment of chronic inflammation
Chronic inflammation is a hallmark of numerous diseases, significantly impacting global health. Although chronic inflammation is a hot topic, not much has been written about approaches to its treatment. This thematic issue aims to showcase the latest advancements in chronic inflammation treatment and foster discussion on future directions in this ...read more
Cellular and Molecular Mechanisms of Non-Infectious Inflammatory Diseases: Focus on Clinical Implications
The Special Issue covers the results of the studies on cellular and molecular mechanisms of non-infectious inflammatory diseases, in particular, autoimmune rheumatic diseases, atherosclerotic cardiovascular disease and other age-related disorders such as type II diabetes, cancer, neurodegenerative disorders, etc. Review and research articles as well as methodology papers that summarize ...read more
Chalcogen-modified nucleic acid analogues
Chalcogen-modified nucleosides, nucleotides and oligonucleotides have been of great interest to scientific research for many years. The replacement of oxygen in the nucleobase, sugar or phosphate backbone by chalcogen atoms (sulfur, selenium, tellurium) gives these biomolecules unique properties resulting from their altered physical and chemical properties. The continuing interest in ...read more
- 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
- Announcements
Related Articles
-
The Adult Patient with Eisenmenger Syndrome: A Medical Update After Dana Point Part I: Epidemiology, Clinical Aspects and Diagnostic Options
Current Cardiology Reviews Chest X-ray in Sarcoidosis: The Association of Age, Gender, and Ethnicity with Different Radiological Findings
Current Respiratory Medicine Reviews Biomarkers in Lone Atrial Fibrillation-An Additional ‘Fine Tuning’ of Risk?
Current Pharmaceutical Design New Insights into the Surgical Management of Tetralogy of Fallot: Physiological Fundamentals and Clinical Relevance
Current Pediatric Reviews The GH/IGF-1 Axis and Heart Failure
Current Cardiology Reviews Cardiac Metabolism in Diabetes Mellitus
Current Pharmaceutical Design Systemic Lupus Erythematosus-Related Interstitial Lung Disease
Current Rheumatology Reviews A Review of Maternal and Fetal Growth Factors in Diabetic Pregnancy
Current Diabetes Reviews The Cardiac Microvasculature in Hypertension, Cardiac Hypertrophy and Diastolic Heart Failure
Current Vascular Pharmacology Multimodality Imaging in Cardiac Sarcoidosis: Is There a Winner?
Current Cardiology Reviews NK-1 Receptor Antagonists: A New Paradigm in Pharmacological Therapy
Current Medicinal Chemistry Malignant Hypertension: A Rare Problem or is it Underdiagnosed?
Current Vascular Pharmacology Cardiomyopathy of Pregnancy
Current Women`s Health Reviews Recent advances in the management of autoimmune myocarditis: insights from animal studies.
Current Pharmaceutical Design A Deep Neural Network to Distinguish COVID-19 from other Chest Diseases Using X-ray Images
Current Medical Imaging Angiotensin-Converting Enzyme Inhibitors: Mechanisms of Action and Implications In Anesthesia Practice
Current Pharmaceutical Design Neonatal Hypertension: An Underdiagnosed Condition, A Review Article
Current Hypertension Reviews Patent Ductus Arteriosus in Extreme Prematurity: Role of Echocar-diography and Other Imaging Techniques
Current Pediatric Reviews Low Dose Chest Computed Tomography, in Identifying Pulmonary Complications in Immunocompromised Patients After Allogeneic Hematopoietic Stem Cell Transplantation
Current Respiratory Medicine Reviews Stairway to Heaven or Hell? Perspectives and Limitations of Chagas Disease Chemotherapy
Current Topics in Medicinal Chemistry