Associated Papers
Association of epilepsy and neurological impairments with homozygous recessive missense mutations found in the genes responsible for ganglioside biosynthesis (ST3GAL5) and calcium voltage-gated channels (CACNA1H) - insights through molecular dynamic simulations.
Abid R et al.
Journal of Biomolecular Structure & Dynamics, 2025
When ganglioside pathways go awry: congenital disorders and experimental insights.
Inamori KI et al.
Journal of Human Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Dynamic glycosylation remodeling in neurological disorders.
Xing D et al.
Frontiers in Molecular Neuroscience, 2025
Genetic disease amongst the Plain community.
Mascia KL
Current Opinion in Pediatrics, 2024
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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
Dookwah M et al.
Human Molecular Genetics, 2023
Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
Yang H et al.
Jci Insight, 2023
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
Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme, ST3GAL5 Gene in a Saudi Family Causing Salt and Pepper Syndrome.
Abdulkareem AA et al.
Genes, 2023
GM3 synthase deficiency increases brain glucose metabolism in mice.
Bharathi SS et al.
Molecular Genetics and Metabolism, 2022
Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients.
Inamori KI et al.
International Journal of Molecular Sciences, 2022
GM3 synthase deficiency in non-Amish patients.
Heide S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Congenital Disorders of Glycosylation from a Neurological Perspective.
Paprocka J et al.
Brain Sciences, 2021
The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.
Indellicato R et al.
International Journal of Molecular Sciences, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE et al.
Molecular Genetics and Metabolism, 2019
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.
Indellicato R et al.
Glycobiology, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.
Wang H et al.
Jimd Reports, 2019
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.
Gordon-Lipkin E et al.
Journal of Child Neurology, 2018
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The emerging genetic landscape of cerebral palsy.
van Eyk CL et al.
Handbook of Clinical Neurology, 2018
Identification of a new B4GalNAcT1 (GM2/GD2/GA2 synthase) isoform, and regulation of enzyme stability and intracellular transport by arginine-based motif.
Shishido F et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
Lee JS et al.
American Journal of Medical Genetics. Part A, 2016
Human genetic disorders of sphingolipid biosynthesis.
Astudillo L et al.
Journal of Inherited Metabolic Disease, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
Fragaki K et al.
European Journal of Human Genetics : Ejhg, 2013
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.
Wang H et al.
American Journal of Medical Genetics. Part A, 2013
Enhanced Susceptibility to Chemoconvulsant-Induced Seizures in Ganglioside GM3 Synthase Knockout Mice.
Tang FL et al.
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