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Biomedicines
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Sphingolipid Metabolism and Signaling in Health and Diseases: 2nd Edition
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Sphingolipid Metabolism and Signaling in Health and Diseases: 2nd Edition

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Cell Biology and Pathology".

Deadline for manuscript submissions: 30 June 2026 | Viewed by 7738

Special Issue Editors

Dr. Giulia Lunghi

E-Mail Website
Guest Editor
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Interests: sphingolipids; neurodegenerative disorders; GM1 ganglioside; lysosomes
Special Issues, Collections and Topics in MDPI journals
Dr. Elena Chiricozzi

E-Mail Website
Guest Editor
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Interests: glycosphingolipids; gangliosides; GM1; GM1 oligosaccharide; plasma membrane signaling; neuronal disease; Parkinson’s disease
Special Issues, Collections and Topics in MDPI journals
Dr. Maria Fazzari

E-Mail Website
Guest Editor
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Interests: gangliosides; GM1 ganglioside; neurodegenerative and neurodevelopmental disor-ders; mitochondria
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Sphingolipids are a class of lipids highly expressed in eukaryotic cells, where they represent key components of membranes. In addition to their structural role, they act as bioactive molecules capable of modulating intracellular signaling and, accordingly, several cell functions, including cell proliferation, differentiation, migration and apoptosis. Consequently, alterations in sphingolipid metabolism and signaling have been associated with several pathological conditions, spanning from neurodegeneration to cancer and diabetes. However, a complete comprehension of the molecular mechanism by which sphingolipids regulate cell homeostasis is still lacking. Providing new information about sphingolipid signaling and metabolism is pivotal for addressing their role both in health and in diseases.

In this Special Issue “Sphingolipid Metabolism and Signaling in Health and Disease”, we aim to collect original research and review articles regarding the role of sphingolipids in modulating cellular functions in different physiopathological conditions.

Dr. Giulia Lunghi
Dr. Elena Chiricozzi
Dr. Maria Fazzari
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 250 words) can be sent to the Editorial Office for assessment.

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. Biomedicines 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 2600 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

  • sphingolipids
  • glycosphingolipids
  • gangliosides
  • sphingosine-1-phosphate
  • cell homeostasis
  • neurodegeneration
  • neurodevelopment
  • inflammation
  • diabetes
  • cystic fibrosis
  • cancer

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Related Special Issue

Published Papers (3 papers)

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Research

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22 pages, 2773 KB  
Article
Metabolic and Structural Consequences of GM3 Synthase Deficiency: Insights from an HEK293-T Knockout Model
by Elena Chiricozzi, Giulia Lunghi, Manuela Valsecchi, Emma Veronica Carsana, Rosaria Bassi, Erika Di Biase, Dorina Dobi, Maria Grazia Ciampa, Laura Mauri, Massimo Aureli, Kei-ichiro Inamori, Jin-ichi Inokuchi, Sandro Sonnino and Maria Fazzari
Biomedicines 2025, 13(4), 843; https://doi.org/10.3390/biomedicines13040843 - 1 Apr 2025
Cited by 1 | Viewed by 2169
Abstract
Background: GM3 Synthase Deficiency (GM3SD) is a rare autosomal recessive neurodevelopmental disease characterized by recurrent seizures and neurological deficits. The disorder stems from mutations in the ST3GAL5 gene, encoding GM3 synthase (GM3S), a key enzyme in ganglioside biosynthesis. While enzyme deficiencies affecting [...] Read more.
Background: GM3 Synthase Deficiency (GM3SD) is a rare autosomal recessive neurodevelopmental disease characterized by recurrent seizures and neurological deficits. The disorder stems from mutations in the ST3GAL5 gene, encoding GM3 synthase (GM3S), a key enzyme in ganglioside biosynthesis. While enzyme deficiencies affecting ganglioside catabolism are well-documented, the consequences of impaired ganglioside biosynthesis remain less explored. Methods: To investigate GM3SD, we used a Human Embryonic Kidney 293-T (HEK293-T) knockout (KO) cell model generated via CRISPR/Cas9 technology. Lipid composition was assessed via high-performance thin-layer chromatography (HPTLC); glycohydrolase activity in lysosomal and plasma membrane (PM) fractions was enzymatically analyzed. Lysosomal homeostasis was evaluated through protein content analysis and immunofluorescence, and cellular bioenergetics was measured using a luminescence-based assay. Results: Lipidome profiling revealed a significant accumulation of lactosylceramide (LacCer), the substrate of GM3S, along with increased levels of monosialyl-globoside Gb5 (MSGb5), indicating a metabolic shift in glycosphingolipid biosynthesis. Lipid raft analysis revealed elevated cholesterol levels, which may impair microdomain fluidity and signal transduction. Furthermore, altered activity of lysosomal and plasma membrane (PM)-associated glycohydrolases suggests secondary deregulation of glycosphingolipid metabolism, potentially contributing to abnormal lipid patterns. In addition, we observed increased lysosomal mass, indicating potential lysosomal homeostasis dysregulation. Finally, decreased adenosine triphosphate (ATP) levels point to impaired cellular bioenergetics, emphasizing the metabolic consequences of GM3SD. Conclusions: Together, these findings provide novel insights into the molecular alterations associated with GM3SD and establish the HEK293-T KO model as a promising platform for evaluating potential therapeutic strategies. Full article
(This article belongs to the Special Issue Sphingolipid Metabolism and Signaling in Health and Diseases: 2nd Edition)
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19 pages, 3499 KB  
Article
Acid Sphingomyelinase and Ceramide Signaling Pathway Mediates Nicotine-Induced NLRP3 Inflammasome Activation and Podocyte Injury
by Mohammad Atiqur Rahman, Sayantap Datta, Harini Lakkakula, Saisudha Koka and Krishna M. Boini
Biomedicines 2025, 13(2), 416; https://doi.org/10.3390/biomedicines13020416 - 9 Feb 2025
Cited by 3 | Viewed by 3116
Abstract
Background: Recent studies have shown that Nlrp3 inflammasome activation is importantly involved in podocyte dysfunction induced by nicotine. The present study was designed to test whether acid sphingomyelinase (Asm) and ceramide signaling play a role in mediating nicotine-induced Nlrp3 inflammasome activation and subsequent [...] Read more.
Background: Recent studies have shown that Nlrp3 inflammasome activation is importantly involved in podocyte dysfunction induced by nicotine. The present study was designed to test whether acid sphingomyelinase (Asm) and ceramide signaling play a role in mediating nicotine-induced Nlrp3 inflammasome activation and subsequent podocyte damage. Methods and Results: Nicotine treatment significantly increased the Asm expression and ceramide production compared to control cells. However, prior treatment with amitriptyline, an Asm inhibitor significantly attenuated the nicotine-induced Asm expression and ceramide production. Confocal microscopic and biochemical analyses showed that nicotine treatment increased the colocalization of NLRP3 with Asc, Nlrp3 vs. caspase-1, IL-1β production, caspase-1 activity, and desmin expression in podocytes compared to control cells. Pretreatment with amitriptyline abolished the nicotine-induced colocalization of NLRP3 with Asc, Nlrp3 with caspase-1, IL-1β production, caspase-1 activity and desmin expression. Immunofluorescence analyses showed that nicotine treatment significantly decreased the podocin expression compared to control cells. However, prior treatment with amitriptyline attenuated the nicotine-induced podocin reduction. In addition, nicotine treatment significantly increased the cell permeability, O2 production, and apoptosis compared to control cells. However, prior treatment with amitriptyline significantly attenuated the nicotine-induced cell permeability, O2 production and apoptosis in podocytes. Conclusions: Asm is one of the important mediators of nicotine-induced inflammasome activation and podocyte injury. Asm may be a therapeutic target for the treatment or prevention of glomerulosclerosis associated with smoking. Full article
(This article belongs to the Special Issue Sphingolipid Metabolism and Signaling in Health and Diseases: 2nd Edition)
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Review

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28 pages, 2088 KB  
Review
Glycosphingolipids in Dementia: Insights from Mass Spectrometry and Systems Biology Approaches
by Mirela Sarbu, Raluca Ica, Maria-Roxana Biricioiu, Liana Dehelean and Alina D. Zamfir
Biomedicines 2025, 13(12), 2854; https://doi.org/10.3390/biomedicines13122854 - 22 Nov 2025
Cited by 1 | Viewed by 1829
Abstract
 This narrative literature review synthesizes recent evidence on glycosphingolipid (GSL) dysregulation in dementia, emphasizing discoveries enabled by mass spectrometry (MS) and systems biology. Focusing on the research published within the last decade, we selected studies that are relevant to GSL alterations in dementia [...] Read more.
 This narrative literature review synthesizes recent evidence on glycosphingolipid (GSL) dysregulation in dementia, emphasizing discoveries enabled by mass spectrometry (MS) and systems biology. Focusing on the research published within the last decade, we selected studies that are relevant to GSL alterations in dementia and notable for their methodological advances. The findings were conceptually integrated to emphasize key molecular, analytical, and systems-level aspects across the major dementia types. The results from MS-based glycolipidomics in Alzheimer’s disease, dementia with Lewy bodies, frontotemporal dementia, Parkinson’s disease dementia, and Huntington’s disease consistently indicate altered GSL metabolism and shared molecular vulnerabilities in neuronal lipid regulation. At the same time, distinct GSL signatures differentiate individual dementias, reflecting the disease-specific mechanisms of neurodegeneration. The literature also reveals that recent advances in high-resolution MS and integrative analytical workflows have shifted GSL research from descriptive to mechanistic, facilitating the detailed mapping of species linked to neuroinflammation, protein aggregation, and synaptic dysfunction. Systems-level analyses combining MS data with other omics approaches increasingly depict GSLs as active regulators of neuronal function rather than inert membrane components. At the same time, emerging trends position GSLs as promising early biomarkers and potential therapeutic targets, while the growing use of artificial intelligence in MS data analysis is accelerating the detection of their subtle patterns, improving cross-disease comparisons. Together, these results reinforce the major role of MS-based platforms in discovering dementia-associated GSLs, identifying therapeutic targets, and influencing future strategies for diagnosis and treatment.  Full article
(This article belongs to the Special Issue Sphingolipid Metabolism and Signaling in Health and Diseases: 2nd Edition)
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