Lysosomal Storage Disease: From Molecular Mechanisms to Therapeutic Opportunities
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".
Deadline for manuscript submissions: closed (15 August 2021) | Viewed by 6267
Special Issue Editor
Interests: clinical, biochemical, and genetic characterization of sphingolipidoses (metachromatic leukodystrophy, M. Krabbe, NP-C, and gangliosidoses); standardized clinical description including neuroimaging with natural history and following therapy; neuroplasticity, reorganization, and vulnerability after early brain lesions; cerebral palsy.
Special Issue Information
Dear Colleagues,
Lysosomal storage disorders have been known for decades to be multisystem disorders with a variable onset and course. The degree to which the central nervous system is affected usually determines the severity and fatality of the disease. Although individual defects are very rare (usually with an incidence of <1:100,000), interest in these disorders is increasing. The molecular basis is increasingly being elucidated and therapeutic strategies are becoming more developed with growing expertise in targeted cellular and genetic therapies. This encourages the development of systematic and standardized approaches to capture the clinical features of these diseases and their natural history, including registries and biobanking. Early diagnosis represents a challenge as therapeutic effects can mainly be achieved early in the disease course. Quite recent is interest in the role of lysosomes in a number of adult neurodegenerative disorders, such as Parkinson’s disease and Alzheimer’s disease. Although not of monogenetic origin, heterozygous and homozygous mutations in lysosomal genes are amongst the highest genetic risk factors and lysosomal dysfunction may enhance the neurodegenerative process.
We invite you to contribute to this Special Issue of Cells, which is dedicated to these disorders. Contributions on cell biology, molecular biology, and biophysics are as welcome, as are clinical studies covering the natural history or therapeutic aspects.
Prof. Ingeborg Krägeloh-Mann
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. 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.
Keywords
- lysosomal storage disorders
- neurodegeneration
- cell biology
- molecular biology
- biophysics
- therapeutic options
- natural course
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.