Lysosomal Storage Disorders (LSDs) are a heterogeneous group of rare genetic conditions that arise due to a deficiency of lysosomal enzymes or an essential cofactor, leading to substrate deposition within the lysosomes. Lysosomal abnormalities lead to changes in autophagy, energy balance, and mitochondrial function. LSD is subclassified according to the type of stored materials originating from sphingolipids, glycosaminoglycans, lipofuscin metabolism, integral membrane proteins, or post-translational modifications. The trapping of sphingolipid metabolites inhibits lipid recycling and directly affects the lipid composition of cellular or inner mitochondrial membranes.
Although the clinical features of LSDs vary from disease to disease, neurological complications are common and most patients have a decreased lifespan and significant morbidity. Enzyme replacement therapy is available for several LSDs. However, while enzyme replacement therapy helps to slow disease progression and improve clinical symptoms, it does not affect neurologic features due to its inability to cross the blood-brain barrier. Advanced therapies for LSDs include stem cell transplants, gene therapy, small molecule/nanomedicine approaches, and genome editing.
This research topic is focused on gaining a better understanding of the pathogenesis of LSDs. Publications describing new biomarkers and novel therapies for LSDs are welcome.
We welcome the submission of original research articles, and reviews. We also encourage undergraduate students, graduate students, and postdoctoral trainees to write and submit reviews on this topic.
Dr. Margarita M Ivanova
Manuscripts should be submitted via our online editorial system at https://imr.propub.com by registering and logging in to this website. Once you are registered, click here to start your submission. Manuscripts can be submitted now or up until the deadline. All papers will go through peer-review process. Accepted papers will be published in the journal (as soon as accepted) and meanwhile listed together on the special issue website. Research articles, reviews as well as short communications are preferred. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office to announce on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts will be thoroughly refereed through a double-blind peer-review process. Please visit the Instruction for Authors page before submitting a manuscript. The Article Processing Charge (APC) in this open access journal is 2500 USD. Submitted manuscripts should be well formatted in good English.
- Open Access Original ResearchThe Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-MannosidosisMaroš Krchňák, Rebeka Kodríková, Mária Matulová, Marek Nemčovič, ... Zuzana PakanováFront. Biosci. (Landmark Ed) 2023, 28(2), 39; https://doi.org/10.31083/j.fbl2802039(This article belongs to the Special Issue Lysosomal Storage Disorders)65Downloads172Views