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Upscaling the Basic Knowledge of Lysosomal Storage Disorders: Novel Insights...
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Upscaling the Basic Knowledge of Lysosomal Storage Disorders: Novel Insights into the Pathogenic Mechanisms and Emerging Therapeutic Approaches

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".

Deadline for manuscript submissions: closed (30 April 2023) | Viewed by 10412

Special Issue Editor

Dr. Enrico Moro

E-Mail Website1 Website2
Guest Editor
Department of Molecular Medicine, University of Padova, Via U. Bassi 58/ B, 35121 Padova, Italy
Interests: lysosomal storage disorders pathogenesis; Gaucher disease; mucopolysaccharidosis type II; developmental cell signaling; zebrafish; genome editing; axonal guidance regulation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We have all been experiencing, in the past few years, significant advancements in the knowledge of the clinical and pathophysiological aspects of lysosomal diseases. The improvement of diagnostic procedures, combined with the development of novel biotechnological strategies, such as CRISPR/Cas9-based genome editing and the creation of modified chimeric lysosomal enzymes, has widened our possibilities of offering suitable targeted treatments to affected patients. We have also been witnessing the expanding understanding of primary abnormalities occurring in these rare conditions, which may exhibit molecular defects shared with neurocognitive and neurodegenerative disorders. Moreover, the growing evidence that lysosomes hold underexplored functions in aging, oxidative stress response, mitochondrial homeostasis and vesicle trafficking, has recently put a glow on these organelles, particularly in the field of brain diseases. After the successful first edition of the Special Issue entitled “Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches”. I am pleased to announce the invitation for your personal contribution to this novel collection of articles, which aims at providing an updated overview of lysosomal function in both physiological and pathological conditions.

Dr. Enrico Moro
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. Biomolecules 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 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

  • aging
  • oxidative stress
  • brain development
  • neurodegeneration
  • biomarkers

Related Special Issue

Published Papers (3 papers)

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Research

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10 pages, 1957 KiB  
Article
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model
by Francesca D’Avanzo, Alessandra Zanetti, Andrea Dardis, Maurizio Scarpa, Nicola Volpi, Francesco Gatto and Rosella Tomanin
Biomolecules 2023, 13(3), 532; https://doi.org/10.3390/biom13030532 - 15 Mar 2023
Viewed by 1138
Abstract
Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency of one of the lysosomal hydrolases normally degrading GAGs. Affected tissues accumulate undegraded GAGs in cell lysosomes and [...] Read more.
Impaired glycosaminoglycans (GAGs) catabolism may lead to a cluster of rare metabolic and genetic disorders called mucopolysaccharidoses (MPSs). Each subtype is caused by the deficiency of one of the lysosomal hydrolases normally degrading GAGs. Affected tissues accumulate undegraded GAGs in cell lysosomes and in the extracellular matrix, thus leading to the MPS complex clinical phenotype. Although each MPS may present with recognizable signs and symptoms, these may often overlap between subtypes, rendering the diagnosis difficult and delayed. Here, we performed an exploratory analysis to develop a model that predicts MPS subtypes based on UHPLC-MS/MS measurement of a urine free GAG profile (or GAGome). We analyzed the GAGome of 78 subjects (38 MPS, 37 healthy and 3 with other MPS symptom-overlapping disorders) using a standardized kit in a central-blinded laboratory. We observed several MPS subtype-specific GAGome changes. We developed a multivariable penalized Lasso logistic regression model that attained 91.2% balanced accuracy to distinguish MPS type II vs. III vs. any other subtype vs. not MPS, with sensitivity and specificity ranging from 73.3% to 91.7% and from 98.4% to 100%, depending on the predicted subtype. In conclusion, the urine GAGome was revealed to be useful in accurately discriminating the different MPS subtypes with a single UHPLC-MS/MS run and could serve as a reliable diagnostic test for a more rapid MPS biochemical diagnosis. Full article
(This article belongs to the Special Issue Upscaling the Basic Knowledge of Lysosomal Storage Disorders: Novel Insights into the Pathogenic Mechanisms and Emerging Therapeutic Approaches)
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Review

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23 pages, 910 KiB  
Review
Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions
by Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade and Jeffrey A. Medin
Biomolecules 2023, 13(2), 274; https://doi.org/10.3390/biom13020274 - 01 Feb 2023
Cited by 2 | Viewed by 2962
Abstract
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by ASAH1 gene mutations. Currently, 73 different mutations in the ASAH1 gene have been described in humans. These mutations lead to reduced [...] Read more.
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by ASAH1 gene mutations. Currently, 73 different mutations in the ASAH1 gene have been described in humans. These mutations lead to reduced ACDase activity and ceramide (Cer) accumulation in many tissues. Presenting as divergent clinical phenotypes, the symptoms of FD vary depending on central nervous system (CNS) involvement and severity. Classic signs of FD include, but are not limited to, a hoarse voice, distended joints, and lipogranulomas found subcutaneously and in other tissues. Patients with SMA-PME lack the most prominent clinical signs seen in FD. Instead, they demonstrate muscle weakness, tremors, and myoclonic epilepsy. Several ACDase-deficient mouse models have been developed to help elucidate the complex consequences of Cer accumulation. In this review, we compare clinical reports on FD patients and experimental descriptions of ACDase-deficient mouse models. We also discuss clinical presentations, potential therapeutic strategies, and future directions for the study of FD and SMA-PME. Full article
(This article belongs to the Special Issue Upscaling the Basic Knowledge of Lysosomal Storage Disorders: Novel Insights into the Pathogenic Mechanisms and Emerging Therapeutic Approaches)
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8 pages, 597 KiB  
Review
Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction
by Chase Chen, Ellen Sidransky and Yu Chen
Biomolecules 2022, 12(5), 616; https://doi.org/10.3390/biom12050616 - 21 Apr 2022
Cited by 6 | Viewed by 5146
Abstract
Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction plays an important role not only in the rare group of lysosomal storage [...] Read more.
Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction plays an important role not only in the rare group of lysosomal storage diseases but also in a host of others, including common neurodegenerative disorders, such as Alzheimer disease and Parkinson disease. New technological advances have significantly increased our ability to rapidly isolate lysosomes from cells in recent years. The development of the Lyso-IP approach and similar methods now allow for lysosomal purification within ten minutes. Multiple studies using the Lyso-IP approach have revealed novel insights into the pathogenic mechanisms of lysosomal disorders, including Niemann-Pick type C disease, showing the immense potential for this technique. Future applications of rapid lysosomal isolation techniques are likely to greatly enhance our understanding of lysosomal dysfunction in rare and common neurodegeneration causes. Full article
(This article belongs to the Special Issue Upscaling the Basic Knowledge of Lysosomal Storage Disorders: Novel Insights into the Pathogenic Mechanisms and Emerging Therapeutic Approaches)
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