Updates on Molecular Mechanisms of Lysosomal Storage Disease
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Biological Factors".
Deadline for manuscript submissions: 31 August 2025 | Viewed by 59
Special Issue Editors
Interests: inborn errors of metabolism (IEM); rare diseases (RDs); peroxisomal disorders; lysosomal diseases; congenital disorders of glycosylation (CDG); mitochondrial diseases; diagnostics in metabolic diseases; newborn screening; next-generation sequencing (NGS) in IEM; biomarkers
Special Issues, Collections and Topics in MDPI journals
Interests: inborn errors of metabolism (IEM); lysosomal storage disorders (LSDs); congenital disorders of glycosylation (CDG); liver monogenic diseases; next-generation sequencing (NGS)
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Lysosomal storage diseases (LSDs) are a group of inherited (monogenic) metabolic diseases associated with the dysfunction of lysosomal apparatus. Virtually every cell in the body possesses lysosomes, yet storage in these organelles can vary even among various cells. The clinical phenotype is quite heterogeneous, affecting multiple organs and systems, reflecting also the complexity of their pathomechanism. The introduction of enzyme replacement therapy for LSDs created a breakthrough in treating genetic diseases. Even though our knowledge of LSD has increased, and many therapies have been established, many molecular aspects remain ambiguous.
This Special Issue provides an opportunity for researchers to contribute with original papers as well as review articles that will provide a comprehensive overview of the molecular aspects of various LSDs. Thus, research papers allowing a better understanding of the molecular physiopathology underlying LSDs, providing novel potential molecular biomarkers, and describing pre-clinical aspects at the molecular level are welcome.
Prof. Dr. Anna Tylki-Szymanska
Dr. Patryk Lipiński
Guest Editors
Manuscript Submission Information
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Keywords
- lysosomal storage disease (LSD)
- molecular mechanisms of LSD
- genetic analyses
- genotype–phenotype correlation in LSD
- molecular biomarkers in LSD
- gene therapy in LSD
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