Lysosomal Storage Disorders: Pathophysiology, Molecular Mechanism and Therapeutic Strategies
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: 20 April 2025 | Viewed by 1962
Special Issue Editors
2. Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel
Interests: Gaucher disease; lysosomal disorders; GBA-related Parkinson disease
Special Issues, Collections and Topics in MDPI journals
2. Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 9112102, Israel
Interests: Gaucher disease; pediatric hematology; pediatric thrombosis and hemostasis; platelet disorders
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
It gives us pleasure to invite you to submit a paper to the forthcoming Special Issue of the International Journal of Molecular Sciences (IJMS) on Lysosomal Storage Disorders (LSD). This is a continued issue of our successful special issue: https://www.mdpi.com/journal/ijms/special_issues/PMMTS_LSDs.
As 70 inherited metabolic disorders, Lysosomal Storage Disorders are considered rare, as a group, their incidence is about 1:5000, and they are all the more important given the many different types of underlying lysosomal dysfunction. In addition to the accumulation of the unmetabolized substrate (hence the concept of “storage” disorders), there are a variety of cellular and subcellular abnormalities, including endoplasmic reticulum stress, altered lipid trafficking, autophagy, inflammation, and autoimmune responses. Each of these pathological processes, alone or in combination, may lead to the development of novel therapeutic modalities, some of which have already changed natural history and the lives of patients with various diseases, such as Gaucher, Fabry, MPS and others, and in addition, these new treatments, including gene therapy, may also be of relevance to more common disorders, as we have witnessed from the relationship between Gaucher (both patients and carriers) and Parkinson’s diseases.
Prof. Dr. Ari Zimran, Prof. Dr. Shoshana Revel-Vilk and assisting by our Topical Advisory Panel Member Dr. Ambra Del Grosso (NEST, Istituto Nanoscienze-CNR and Scuola Normale Superiore), the Special Issue aims to showcase the latest advancements and innovative research in LSD. Your contribution will help make this a truly comprehensive and valuable resource for the research community. We welcome any high-quality contribution, which could be research articles from basic science to clinical studies, and we also invite reviews and case studies, with a common purpose to expand the current knowledge in this important area. Please note for IJMS's paper, clinical trials, and animal and cell testings are eligible only if they are strongly needed to support hypotheses or theories concerning structure–function correlations and are not suitable if no molecular aspects are considered.
Prof. Dr. Ari Zimran
Prof. Dr. Shoshana Revel-Vilk
Guest Editors
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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.
Keywords
- lysosomal storage disorders
- LSDs
- lysosomal dysfunction
- endoplasmic reticulum stress
- altered lipid trafficking
- autophagy
- inflammation
- enzyme therapy
- substrate reduction
- pharmacological chaperones
- gene therapy
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