ArticleHuman molecular genetics2014
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers, 1 of them a synthesis that pooled it.
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Who cites it
95 citing papers in PubMed, 1 synthesis or guideline pooled it, 178 citations in OpenAlex.
- Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Biosynthetic and genetic pathways related to sialic acid metabolism.The Journal of biological chemistry · 2026Review
- Biosynthesis of human milk oligosaccharides (HMOs) in glycoengineered human cells.Glycobiology · 2026Article
- Mapping ST3GAL transferase specificities in the glycosylation landscape of N/TERT-1 keratinocytes using Glycogenomics and mass spectrometry.Glycobiology · 2026Article
- Sialylation in the nervous system: Functions and mechanisms.The Journal of biological chemistry · 2026Review
- Does Altered Membrane Glycosylation Contribute to Neurodevelopmental Dysfunction in Autism Spectrum Disorder?Membranes · 2026Review
- Globotriaosylceramide Gb3 Influences Wound Healing and Scar Formation by Orchestrating Fibroblast Heterogeneity.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development.Journal of neurochemistry · 2025Review
- Gangliosides modulate the secretion of extracellular vesicles and their misfolded protein cargo.Science advances · 2025Article
- Emerging roles of lipid transfer protein dimerization.Journal of cell science · 2025Review
- When ganglioside pathways go awry: congenital disorders and experimental insights.Journal of human genetics · 2025Review
- EvoWeaver: large-scale prediction of gene functional associations from coevolutionary signals.Nature communications · 2025Article
- St3gal5-mediated sialylation of glyco-CD177 on neutrophils restricts neuroinflammation following CNS injury.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Metabolic and Structural Consequences of GM3 Synthase Deficiency: Insights from an HEK293-T Knockout Model.Biomedicines · 2025Article
- Synthesis, function, and therapeutic potential of glycosphingolipids.Frontiers in immunology · 2025Review
- Dynamic glycosylation remodeling in neurological disorders.Frontiers in molecular neuroscience · 2025Review
- DANGO: An MS data annotation tool for glycolipidomics.BBA advances · 2025Article
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- Glycosphingolipids and their impact on platelet activity in a murine model of fabry disease.Scientific reports · 2024Article
- Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.Orphanet journal of rare diseases · 2024Review
35 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
'Salt & Pepper' syndrome is an autosomal recessive condition characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation. High-density SNP array analysis performed on siblings first described with this syndrome detected four shared regions of loss of heterozygosity (LOH). Whole-exome sequencing narrowed the candidate region to chromosome 2p11.2. Sanger sequencing confirmed a homozygous c.994G>A transition (p.E332K) in the ST3GAL5 gene, which encodes for a sialyltransferase also known as GM3 synthase. A different homozygous mutation of this gene has been previously associated with infantile-onset epilepsy syndromes in two other cohorts. The ST3GAL5 enzyme synthesizes ganglioside GM3, a glycosophingolipid enriched in neural tissue, by adding sialic acid to lactosylceramide. Unlike disorders of glycosphingolipid (GSL) degradation, very little is known regarding the molecular and pathophysiologic consequences of altered GSL biosynthesis. Glycolipid analysis confirmed a complete lack of GM3 ganglioside in patient fibroblasts, while microarray analysis of glycosyltransferase mRNAs detected modestly increased expression of ST3GAL5 and greater changes in transcripts encoding enzymes that lie downstream of ST3GAL5 and in other GSL biosynthetic pathways. Comprehensive glycomic analysis of N-linked, O-linked and GSL glycans revealed collateral alterations in response to loss of complex gangliosides in patient fibroblasts and in zebrafish embryos injected with antisense morpholinos that targeted zebrafish st3gal5 expression. Morphant zebrafish embryos also exhibited increased apoptotic cell death in multiple brain regions, emphasizing the importance of GSL expression in normal neural development and function.
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