Associated Papers
When ganglioside pathways go awry: congenital disorders and experimental insights.
Inamori KI et al.
Journal of Human Genetics, 2025
Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.
Mu D et al.
Orphanet Journal of Rare Diseases, 2024
Generation of a human induced pluripotent stem cell line from a patient with GM3 synthase deficiency using self-replicating RNA vector.
Tonin R et al.
Stem Cell Research, 2024
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
Watanabe S et al.
Brain & Development, 2023
Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency.
Rudy N et al.
Jimd Reports, 2023
Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients.
Inamori KI et al.
International Journal of Molecular Sciences, 2022
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D et al.
Journal of Clinical Medicine, 2021
34362006 (PubMed )
Supplement: jcm-10-03222-s001.zip › jcm-1250779-conversion › Table_S3.pdf
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