Advance in the Mechanism and Treatment of Lysosomal Storage Disorders
A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".
Deadline for manuscript submissions: closed (15 August 2022) | Viewed by 3664
Special Issue Editor
Special Issue Information
Dear Colleagues,
Lysosomal storage disorders (LSDs) are inherited metabolic diseases usually caused by the deficiency of an enzyme, resulting in substrate accumulation. Clinical features vary among the disorders, but they all share a progressive course. The advent of enzyme replacement therapy (ERT) in the 1990s changed the natural history of Gaucher disease, the first treated LSD. Nowadays, many other ERTs are commercially available, but the morbidity and mortality of LSDs are still high. Current ERT has several limits: the enzymes are not able to cross the blood–brain barrier, it has poor efficacy in cases of late diagnosis, it has high costs, and it requires I.V. administration. Over the last few years, new therapeutic approaches involving small molecules, such as chaperone or substrate reduction therapies, have been approved. These drugs can be taken orally, but their efficacy and safety in the long term need to be demonstrated. New therapeutic frontiers are under study, including treatments for different LSDs, systems to potentiate ERT, approaches for neurological complications, and genetic therapies.
Given these developments, we invite researchers to contribute original studies, as well as review articles, addressing recent advances in the treatment of LSDs. Your ground-breaking research will contribute to the improvement of patients’ lives in the near future
Dr. Annalisa Sechi
Guest Editor
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. Life is an international peer-reviewed open access monthly 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 2600 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.
Keywords
- lysosomal storage disorders
- enzyme replacement therapy
- chaperone
- substrate reduction therapy
- genetic therapy
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue polices can be found here.