Genetic and Metabolic Molecular Research of Lysosomal Storage Disease 4.0
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 30 September 2024 | Viewed by 3746
Special Issue Editor
Interests: gene expression regulation; DNA replication; bacteriophages; plasmids; human genetic diseases; neurodegeneration
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders in which the defects of various lysosomal enzymes and regulatory proteins result in the accumulation of different macromolecules in these organelles. Over 50 LSDs are described in the literature, and they are among the most intensively studied genetic disorders. They are also model genetic diseases for the development of various therapeutic approaches. The introduction of enzyme replacement therapy for LSDs created a breakthrough in treating genetic diseases, and several different therapeutic options are currently being studied, including hematopoietic stem cell transplantation, gene therapy and substrate reduction therapy. However, to develop new therapies, the molecular mechanisms of LSDs must be understood in great detail. Now is the time for extensive molecular research on LSDs. This Special Issue is devoted to publishing the results of such studies, including basic research on the molecular mechanisms of LSDs, translational studies on novel therapies, and clinical investigations performed at the molecular level. Review articles on all these aspects are also welcome. Therefore, this Special Issue shall provide a comprehensive view on the molecular aspects of various LSDs.
This issue is devoted to presenting research on the molecular aspects of lysosomal storage diseases. This group of diseases is at the forefront of genetic and metabolic disorders that are studied at the molecular level, and our understanding of molecular mechanisms, molecular pharmacology and clinical aspects at the molecular level is crucial for further research in this field, as well as opening new ways of thinking about other less-understood diseases.
Prof. Dr. Grzegorz Wegrzyn
Guest Editor
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Keywords
- lysosomal storage diseases
- molecular mechanisms of genetic disorders metabolic diseases
- accumulation of macromolecules in cells
- enzyme replacement therapy
- hematopoietic stem cell transplantation gene therapy
- substrate reduction therapy
- translational research
- novel therapies for genetic diseases
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Related Special Issues
- Genetic and Metabolic Molecular Research of Lysosomal Storage Disease in International Journal of Molecular Sciences (8 articles)
- Genetic and Metabolic Molecular Research of Lysosomal Storage Disease 2.0 in International Journal of Molecular Sciences (8 articles)
- Genetic and Metabolic Molecular Research of Lysosomal Storage Disease 3.0 in International Journal of Molecular Sciences (11 articles)