Special Issue "Cellular and Molecular Mechanisms of Lysosomal Storage Disorders"
Deadline for manuscript submissions: 31 October 2023 | Viewed by 1366
Interests: lysosomal storage disorders; vesicular trafficking; endosomal sorting; lysosome biogenesis; mitochondrial diseases; autoimmune disorders
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Lysosomal storage disorders (LSDs) are rare, monogenic diseases that are characterized by aberrant lysosomes with storage material. These diseases often manifest as neurodegeneration and are associated with a reduced life span. Many of the LSDs result from a deficiency of a single enzyme, whereas others are caused by mutations in non-enzymatic proteins. The molecular mechanisms and cellular pathology of these diseases have been subject to intensive research for decades, but only few therapy options for these diseases are available. However, ever more preclinical studies on novel therapies such as gene therapy, chaperone therapy and enzyme replacement therapy are emerging in the last few years.
The purpose of this Special Issue is to summarize our current understanding about the disease pathogenesis and molecular mechanisms of LSDs, and to explore therapeutic strategies that could be used in LSDs. We also welcome manuscripts addressing the involvement of various cellular pathways such as autophagy, neuroinflammation, endosomal dysfunction and signaling pathways in the pathogenesis of LSDs. Novel concepts such as the common features of LSDs and other neurodegenerative diseases such as Alzheimer’s or Parkinson’s are also subjects of interest for this Special Issue. We encourage the submission of comprehensive review articles and original research papers. Our aim is to provide a comprehensive update on LSDs, their pathomechanisms and therapy options.
Prof. Dr. Ritva Tikkanen
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- lysosomal storage disorders
- enzyme replacement
- gene therapy
- substrate reduction
- pharmacological chaperones
- endosomal dysfunction