GM3 synthase deficiency in non-Amish patients-Reference-Cited by-同舟云学术

GM3 synthase deficiency in non-Amish patients

Published:2022-02 Issue:2 Volume:24 Page:492-498
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Heide Solveig,Jacquemont Marie-Line,Cheillan David,Renouil Michel,Tallot Marilyn,Schwartz Charles E.,Miquel Juliette,Bintner Marc,Rodriguez Diana,Darcel Françoise,Buratti Julien,Haye Damien,Passemard Sandrine,Gras Domitille,Perrin Laurence,Capri Yline,Gérard Bénédicte,Piton Amélie,Keren Boris,Thauvin-Robinet Christel,Duffourd Yannis,Faivre Laurence,Poe Charlotte,Pervillé Anne,Héron Delphine,Thévenon Julien,Arnaud Lionel,LeGuern Eric,La Selva Lorita,Vetro Annalisa,Guerrini Renzo,Nava Caroline,Mignot Cyril

Funder

Regione Toscana

Institut National de la Santé et de la Recherche Médicale

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference19 articles.

1. Current trends in the structure-activity relationships of sialyltransferases;Audry;Glycobiology,2011

2. Glycosphingolipids in cellular interaction, differentiation, and oncogenesis;Hakomori;Annu Rev Biochem,1981

3. Mice expressing only monosialoganglioside GM3 exhibit lethal audiogenic seizures;Kawai;J Biol Chem,2001

4. Glycosphingolipids;Schnaar,2015

5. Recessive GM3 synthase deficiency: natural history, biochemistry, and therapeutic frontier;Bowser;Mol Genet Metab,2019

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1. Dietary gangliosides rescue GM3 synthase deficiency outcomes in mice accompanied by neurogenesis in the hippocampus;Frontiers in Neuroscience;2024-07-25

2. Human genetic defects of sphingolipid synthesis;Journal of Inherited Metabolic Disease;2024-05-05

3. Synthetic GM1 improves motor and memory dysfunctions in mice with monoallelic or biallelic disruption of GM3 synthase;FEBS Open Bio;2023-07-13

4. Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants;Brain and Development;2023-05

5. Sialyltransferase Activity Assay for Ganglioside GM3 Synthase;Glycolipids;2023