Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies

Dear Colleagues,

Lysosomal storage disorders (LSDs) are a group of about 50 inherited metabolic diseases that are characterized by the accumulation of undegraded products within the lysosomes, resulting in the formation of large intracellular vacuoles. Although individually rare, the lysosomal storage disorders as a group have a frequency of about 1/5000 live births, making this disease group a major challenge for the healthcare system.

Over the last two decades, there has been a huge expansion of investigations in the field of LSDs, which has greatly increased our understanding of their pathogenic mechanisms. These studies have disclosed the important role of the altered autophagy flux and mitochondrial function, which along with the stimulation of inflammatory responses appear to represent a common feature of many LSDs. In addition, the interplay between the accumulation/mislocalization of substrates and the alteration of many signaling pathways is also gaining attention in the context of LSDs. Despite that, current therapeutic options, mostly consisting of enzyme replacement therapies, are only available for a few LSDs. These therapies show poor efficacy to rescue the neurological manifestations. Hence, the identification and validation of novel therapeutic approaches exhibiting improved efficacy and the ability to target the central nervous system represent an absolute requirement.

This Special Issue is devoted to publishing results on any features of LSDs, including basic research on molecular mechanisms of LSDs, translational studies on novel therapies, and clinical investigations. Review articles on all these aspects are also welcome, as well as any study including the relationship between LSDs and more common neurodegenerative diseases such as Alzheimer’s or Parkinson’s. This Special Issue will provide a comprehensive view of the molecular aspects of various LSDs. We aim to provide a comprehensive update on LSDs and their pathomechanisms and therapeutic strategies. It comprehensively covers many areas in the LSDs field and could be of interest to a broad range of readers including physicians, scientists, students, pharmaceutical companies, and LSDs communities.

Dr. Luigi Michele Pavone
Dr. Valeria De Pasquale
Guest Editors

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