Advances in Lysosomal Disorders: From Molecular Mechanisms to Diagnosis
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: 29 March 2026 | Viewed by 2
Special Issue Editors
Interests: kidney glomerular diseases; vascular diseases; vascular stem cells; electron microscopy; nephropathology; nanomaterials
Special Issues, Collections and Topics in MDPI journals
2. Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40138 Bologna, Italy
Interests: chronic kidney injury; rare diseases; diabetes; renal injury biomarkers
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Anderson–Fabry disease is a rare lysosomal storage disorder associated with mutations in the GLA gene. In recent years, thanks to multidisciplinary research efforts involving geneticists, pediatricians, nephrologists, cardiologists, neurologists, internists, and pathologists, among others, much knowledge has been gained about the physiopathogenetic mechanism and the initiators and effectors of tissue damage.
Despite this, many areas of further investigation are still needed to improve the diagnostic and treatment process for patients.
In the field of genetic diagnosis, more than a thousand mutations of the GLA gene have been described, but VUS still represents a clinical challenge, especially in the era of screening. Instrumental diagnostics has achieved important developments in this pathology, particularly in resonance techniques. The application of artificial intelligence could, in the near future, achieve important applications that improve the recognition times of the pathology. New and old biomarkers are reported, which may implement the ability of clinicians to obtain a correct diagnosis and to follow the patients over time. The study of tissues allows us to obtain important information on the pathogenesis and progression of the damage.
This issue aims to collect original works and review articles that open new diagnostic and/or pathophysiological perspectives on the disease.
Prof. Dr. Gianandrea Pasquinelli
Dr. Irene Capelli
Guest Editors
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Keywords
- Fabry disease
- lysosomal disorders
- globotriaosylceramide (GB3)
- inherited disease
- GLA-gene
- nephropathy
- hypertrophic cardiomyopathy
- small fiber neuropathy
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