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Special Issue "Molecular Features of Lysosomal Storage Disorders"

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 September 2018

Special Issue Editor

Guest Editor
Prof. Dr. Ritva Tikkanen

Institute of Biochemistry, Medical Faculty, Justus-Liebig University of Giessen, Friedrichstrasse 24, D-35392, Giessen, Germany
Website 1 | Website 2 | E-Mail
Interests: lysosomes; matabolic pathways; lysosomal storage disorders; signaling; cell adhesion; endosomal trafficking

Special Issue Information

Dear Colleagues,

This Special Issue is a continuation of our 2016 Special Issue, “Lysosomal Storage Disorders: Novel Concepts, Therapeutic Aspects and Beyond”.

Lysosomal storage disorders (LSDs) are a heterogeneous group of rare monogenic diseases that are characterized by aberrant lysosomes with storage material. These diseases frequently manifest as severe defects of the central nervous system, mental retardation and reduced life span. Most LSDs result from a deficiency of a single enzyme, whereas others are caused by mutations in non-enzymatic proteins. In the past couple of years, our knowledge about the pathogenesis and the molecular details of the genes involved has substantially increased. These findings have forced us to rethink some old central dogmas about these diseases and revealed novel aspects about the pathomechanisms. Importantly, novel therapy options have become available, or are under development, for some LSDs that were previously considered fatal.

The purpose of this Special Issue is to summarize our current understanding about the molecular features of LSDs and the involvement of various cellular pathways, such as autophagy, neuroinflammation, microgliosis and signaling in their pathogenesis. We also highly welcome papers addressing the molecular aspects of current and prospective therapies for LSDs, as well as novel concepts and hypothesis about these disorders, including their connections to more common diseases, such as Alzheimer or Parkinson. However, papers addressing disease phenotypes or clinical studies without a clear molecular emphasis are not within the scope of this issue. We encourage the submission of review articles and original research papers. Our aim is to provide a comprehensive update on LSDs, their pathomechanisms and therapy options at the molecular level.

Prof. Dr. Ritva Tikkanen
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 papers will be 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 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 1800 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.


  • lysosomes
  • lysosomal storage disorders
  • neurodegeneration
  • nanoparticles
  • enzyme replacement
  • gene therapy
  • substrate reduction
  • pharmacological chaperones

Related Special Issue

Published Papers (1 paper)

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Open AccessArticle Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis
Int. J. Mol. Sci. 2018, 19(2), 625; https://doi.org/10.3390/ijms19020625
Received: 1 February 2018 / Revised: 18 February 2018 / Accepted: 19 February 2018 / Published: 22 February 2018
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Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene. Most JNCL patients exhibit a 1.02 kb genomic deletion removing exons 7 and 8 of this gene, which results in a truncated CLN3 protein carrying an aberrant C-terminus. A genetically
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Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene. Most JNCL patients exhibit a 1.02 kb genomic deletion removing exons 7 and 8 of this gene, which results in a truncated CLN3 protein carrying an aberrant C-terminus. A genetically accurate mouse model (Cln3Δex7/8 mice) for this deletion has been generated. Using cerebellar precursor cell lines generated from wildtype and Cln3Δex7/8 mice, we have here analyzed the consequences of the CLN3 deletion on levels of cellular gangliosides, particularly GM3, GM2, GM1a and GD1a. The levels of GM1a and GD1a were found to be significantly reduced by both biochemical and cytochemical methods. However, quantitative high-performance liquid chromatography analysis revealed a highly significant increase in GM3, suggesting a metabolic blockade in the conversion of GM3 to more complex gangliosides. Quantitative real-time PCR analysis revealed a significant reduction in the transcripts of the interconverting enzymes, especially of β-1,4-N-acetyl-galactosaminyl transferase 1 (GM2 synthase), which is the enzyme converting GM3 to GM2. Thus, our data suggest that the complex a-series gangliosides are reduced in Cln3Δex7/8 mouse cerebellar precursor cells due to impaired transcription of the genes responsible for their synthesis. Full article
(This article belongs to the Special Issue Molecular Features of Lysosomal Storage Disorders)

Figure 1

Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases

Paola Faverio, et al.

Lysosomal storage diseases comprehend a wide range of different disorders with variable degree of involvement of the respiratory system, that has recently started to be investigated. Possible manifestations range from interstitial lung disease involvement in Gaucher’s disease and Niemann Pick disease, obstructive ventilatory disorders in Fabry Disease and ventilatory disorders with chronic respiratory failure in Pompe disease due to muscle weakness. Purpose of the present narrative review is to treat the different types of respiratory involvement in Lysosomal Storage diseases with particular attention to the main molecular pathways known so far to be involved in the pathogenesis of the disease.

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