The Lysosome in Human Health and Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".
Deadline for manuscript submissions: 30 April 2024 | Viewed by 777
Special Issue Editors
Interests: lysosomal storage disorders; mucopolysaccharidoses; mucolipidoses; cell models; animal models; RNA-based therapies
Special Issue Information
Dear Colleagues,
When it was first discovered almost 70 years ago by Christian de Duve, the lysosome got almost instantaneously coined as cell’s waste bin, for its end-point degradative role. Still, over the last decades, this unglamorous (yet essential) role was shown to be just the tip of the iceberg when it comes to this organelle’s part on cell homeostasis. Indeed, besides its role as the cellular recycling center, the lysosome is now known to play a part in pathways as diverse as nutrient sensing, metabolic adaptation, defense, organellar crosstalk, and aging.
Similarly, also its role in health and disease suffered a tremendous shift from the early discovery of a group of rare life-threatening monogenic genetic disorders, which directly arise from its dysfunction, the so-called Lysosomal Storage Disorders (LSDs), to the current recognition of its involvement in some of the most common conditions of our time. More than 70 LSD have been described up to now, but the development of many approaches like NGS-based analysis has allowed the identification of new genes, namely associated with lysosomal abnormalities and impaired vesicle trafficking. Other genetic players on those diseases include the genetic modifiers and epigenetics, which are of great interest for the LSD community. That awareness of more players on LSDs, which add up to the classical one will open new avenues to accelerate the diagnosis and access to therapy. This is particularly important right now, once innovative therapeutic approaches such as chaperone and gene therapies or even gene editing as well as RNA based-therapies are in the pipeline for LSDs.
With this Special Issue of the International Journal of Molecular Sciences, we invite all our colleagues, both from the rare diseases and the common/complex disorders fields, to share their data—and their thoughts—on the central role this organelle plays in both.
Our goal is to edit an issue, as rich and diverse as the organelle which inspired it. Thus, we hope to receive submissions in themes as varied as Lysosomal Storage Disorders (including their molecular/biochemical basis, innovative therapeutic approaches and novel biomarkers); lysosomal trafficking and signaling, nutrient sensing mechanisms and pathways and cell death; and in formats as diverse as original articles and review papers. Ultimately, we want to edit an issue that not only reflects but somehow praises this central hub role our favorite organelle has granted over the last years. So, we are calling all other lysosomal enthusiasts out there, to help us show how incredible and absolutely essential this organelle is.
Dr. Maria Francisca Coutinho
Dr. Sandra Alves
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
- lysosomal hub
- lysosomal signalling
- lysosomal trafficking
- nutrient sensing
- cell death
- disease models
- biomarkers
- RNA-therapeutics
