ArticleAmerican journal of human genetics2013
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers.
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Who cites it
95 citing papers in PubMed, 180 citations in OpenAlex.
- Interplay of SLC33A1-dependent and -independent Golgi sialic acid O-acetylation in CASD1 catalysis.Nature communications · 2026Article
- Gangliosides in molecular interactions and cell regulation.The Journal of biological chemistry · 2026Review
- Gangliosides modulate the secretion of extracellular vesicles and their misfolded protein cargo.Science advances · 2025Article
- Characterization of Human Recombinant β1,4-GalNAc-Transferase B4GALNT1 and Inhibition by Selected Compounds.Molecules (Basel, Switzerland) · 2025Article
- Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia.Movement disorders clinical practice · 2025Article
- When ganglioside pathways go awry: congenital disorders and experimental insights.Journal of human genetics · 2025Review
- Conformational dynamics and membrane insertion mechanism of B4GALNT1 in ganglioside synthesis.Nature communications · 2025Article
- Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.Neurology. Genetics · 2025Review
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- Mechanistic and Therapeutic Implications of Protein and Lipid Sialylation in Human Diseases.International journal of molecular sciences · 2024Review
- Glutamate, Gangliosides, and the Synapse: Electrostatics at Work in the Brain.International journal of molecular sciences · 2024Review
- Gangliosides as Therapeutic Targets for Neurodegenerative Diseases.Journal of lipids · 2024Review
- Functional evaluation of novel variants ofFrontiers in neuroscience · 2024Article
- Ganglioside GD3 regulates neural stem cell quiescence and controls postnatal neurogenesis.Glia · 2024Article
- Movement disorders in hereditary spastic paraplegias.Arquivos de neuro-psiquiatria · 2023Review
- Use of mobile technology to identify behavioral mechanisms linked to mental health outcomes in Kenya: protocol for development and validation of a predictive model.BMC research notes · 2023Article
- Synthetic GM1 improves motor and memory dysfunctions in mice with monoallelic or biallelic disruption of GM3 synthase.FEBS open bio · 2023Article
- Disordered testosterone transport in mice lacking the ganglioside GM2/GD2 synthase gene.FEBS open bio · 2023Review
- Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.Genes · 2023Article
- Ganglioside GD3 regulates neural stem cell quiescence and controls postnatal neurogenesis.bioRxiv : the preprint server for biology · 2023Article
35 more citing papers are in PubMed but not listed here.
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Authors and funding
33 authors at 10 institutions in 7 countries.
Funding
Abstract
Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from two additional autosomal-recessive HSP-affected families of German and Brazilian origins. Five homozygous truncating (n = 3) and missense (n = 2) mutations were identified in B4GALNT1. After this finding, we analyzed the entire coding region of this gene in 65 additional cases, and three mutations were identified in two subjects. All mutated cases presented an early-onset spastic paraplegia, with frequent intellectual disability, cerebellar ataxia, and peripheral neuropathy as well as cortical atrophy and white matter hyperintensities on brain imaging. B4GALNT1 encodes β-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), involved in ganglioside biosynthesis. These findings confirm the increasing interest of lipid metabolism in HSPs. Interestingly, although the catabolism of gangliosides is implicated in a variety of neurological diseases, SPG26 is only the second human disease involving defects of their biosynthesis.
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