Glycomics in Health, Aging and Disease

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

Deadline for manuscript submissions: 30 November 2026 | Viewed by 1060

Special Issue Editor


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Guest Editor
Institute for Polymers, Composites and Biomaterials (IPCB CNR) of Catania, Catania, Italy
Interests: glycomics; mass spectrometry; polysaccharides; lipopolysaccharides; structural elucidation; congenital glycosylation defects; neurodegenerative diseases
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Special Issue Information

Dear Colleagues,

The glycome plays an essential role in life, since glycans (glycoproteins, glycolipids, proteoglycans, lipopolysaccharides, free glycans etc.) are vital in cell communication, cell growth, tumors and metastasis, and bacterial and viral infections. It is therefore not surprising that many diseases are linked to abnormalities in the synthesis of glycans, from congenital glycosylation disorders (CDGs) to other illnesses such as autoimmune and inflammatory diseases, neurodegenerative diseases, and cancer.

While the above considerations are well recognized today, the impact of glycome on life was underestimated until relatively recently. The first CDG was described by Jaak Jaeken and collaborators in 1980, with the next case reported only a decade later. The same applies to all other fields of glyco-science, a field that is still relatively young. Today, we are aware of the importance of the glycome in life sciences, and a growing number of scientists are working in this domain. In recent years, we have also seen a proliferation of new analytical and IT tools and new investigation methodologies, and many large projects have been funded by public and private agencies.

With this Special Issue entitled “Glycomics in Health, Aging and Disease”, we aim to provide a dedicated platform for all glyco-scientists to publish their results in the journal of Biomolecules. We welcome all kinds of contributions (reviews, original articles, prospective articles) concerning structural and/or functional studies on glycans and glycoconjugates, as well as on those aspects that can shed light on their physiological roles, their biosynthesis, the pathophysiology of glycosylation disorders, and their role in bacterial and viral infections.

Therefore, we are pleased to invite you to submit your manuscript to this Special Issue.

We look forward to receiving your contributions.

Dr. Domenico Garozzo
Guest Editor

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Keywords

  • glycome
  • glycobiology
  • glycochemistry
  • glycans
  • glycoconjugates

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Published Papers (1 paper)

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Research

13 pages, 518 KB  
Article
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG
by Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone, Georgia MacDonald, Yutaka Furuta, Daniel Schecter, Andrew C. Edmondson, Anne McRae, Josh Baker, Eva Morava and Rory J. Tinker
Biomolecules 2026, 16(3), 418; https://doi.org/10.3390/biom16030418 - 12 Mar 2026
Viewed by 679
Abstract
STT3A encodes the catalytic subunit of the oligosaccharyltransferase A (OST-A) complex and is classically linked to severe autosomal-recessive congenital disorder of glycosylation (CDG). To define the distinct autosomal-dominant disorder, we reviewed all published cases and integrated three previously unpublished individuals from the CDG [...] Read more.
STT3A encodes the catalytic subunit of the oligosaccharyltransferase A (OST-A) complex and is classically linked to severe autosomal-recessive congenital disorder of glycosylation (CDG). To define the distinct autosomal-dominant disorder, we reviewed all published cases and integrated three previously unpublished individuals from the CDG natural history study. Across 21 individuals, abnormal transferrin glycosylation was present in nearly all individuals (20/21), and subtle facial dysmorphism was common (18/21). Neurodevelopmental involvement was frequent, including motor delay (13/21), learning difficulties (13/21), speech delay (12/21), and intellectual disability (10/21). Musculoskeletal manifestations were also common, including skeletal abnormalities (12/21), short stature (11/21), muscle cramps (8/21), and early-onset osteoarthritis in adults (6/21). Less frequent features included congenital heart defects (5/21) and coagulation factor deficiency (5/21). Importantly, the newly reported individuals expand dominant STT3A-CDG with previously unreported features, including anorectal malformation, morbid obesity, and clinically significant bleeding diathesis with von Willebrand factor and factor VIII deficiency. Biochemical signatures ranged from classic type I transferrin patterns to subtle or atypical abnormalities, emphasizing that near-normal transferrin testing does not exclude the diagnosis. Variants clustered in conserved catalytic regions, with recurrent p.Arg405 across de novo, inherited, and mosaic cases supporting a mutational hotspot and likely dominant-negative mechanism. Full article
(This article belongs to the Special Issue Glycomics in Health, Aging and Disease)
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