Novel Molecular Insight into Congenital Disorders of N-Linked Glycosylation
A special issue of Cells (ISSN 2073-4409).
Deadline for manuscript submissions: 30 September 2025 | Viewed by 70
Special Issue Editor
Interests: protein glycosylation; rare genetic disorders; congenital disorders of glycosylation
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
N-linked glycosylation, the attachment of glycans to the amide nitrogen of asparagine residues located within a consensus sequence (Asn-X-Ser or Asn-X-Thr) in proteins, is a vital biochemical process that regulates protein folding, stability, and function. Defects in the N-glycosylation machinery are a hallmark of congenital disorders of N-linked glycosylation (N-linked CDGs), a diverse group of rare genetic conditions with significant clinical variability, ranging from neurological impairments and developmental delays to multisystem dysfunction. Approximately two-thirds of the known CDGs (~160) are associated with N-linked glycosylation. Despite substantial progress in understanding these disorders, many aspects of the molecular mechanisms driving these disorders remain unexplored, highlighting a critical need for continued research and a compelling opportunity for innovative research.
This Special Issue aims to provide a platform for cutting-edge studies on the molecular basis of disease pathophysiology, diagnosis, and therapeutic advancements related to N-linked CDGs. We encourage contributions that explore novel genetic variants, pathway disruptions, and structural insights using tools such as genomics, glycoproteomics, computational modeling, and high-throughput screening. In vivo (including the use of animal models) and in vitro studies addressing the molecular mechanisms and clinical implications of these findings, including biomarker discovery and personalized treatment strategies, are especially welcomed.
By sharing innovative research in this area of research, we aim to foster interdisciplinary collaboration and accelerate breakthroughs that will advance both basic science and clinical care. We invite researchers to contribute their pioneering work on N-linked CDGs, helping to build a comprehensive understanding of these disorders and improving outcomes for affected patients worldwide.
Dr. Ashutosh Pandey
Guest Editor
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Keywords
- N-linked glycosylation
- CDG
- animal models
- genetic variants
- glycomics
- glycoproteomics
- pathophysiology
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