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GM3 Synthase Deficiency.
Cruz V, Xin B, Wang H. Cruz V, et al. 2023 Jul 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 Jul 20. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 37471511 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Early clinical features of GM3 synthase deficiency include infantile onset of severe irritability with feeding difficulties, early and intractable seizures, growth failure with acquired microcephaly, sensorineural hearing impairment, …
CLINICAL CHARACTERISTICS: Early clinical features of GM3 synthase deficiency include infantile onset of severe irritabi …
GM3 synthase deficiency in non-Amish patients.
Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C. Heide S, et al. Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906476 Free article.
PURPOSE: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. ...CONCLUSION: The phenotype of non-Amish patients with GM3SD is similar to the Ami …
PURPOSE: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish …
Dystonia Due to GM3 Synthase Deficiency.
Wang AS, Kilbane C. Wang AS, et al. Mov Disord Clin Pract. 2022 Jan 5;9(2):236-239. doi: 10.1002/mdc3.13399. eCollection 2022 Feb. Mov Disord Clin Pract. 2022. PMID: 35146061 Free PMC article.
The ST3GAL5 gene encodes the enzyme GM3 synthase, and its deficiency causes a rare condition described to cause refractory epilepsy, profound intellectual disability, quadriplegia, choreoathetosis, and pigmentary skin changes. GM3 synthase deficiency is rarel …
The ST3GAL5 gene encodes the enzyme GM3 synthase, and its deficiency causes a rare condition described to cause refractory epilepsy, profoun …
GM3 synthase deficiency increases brain glucose metabolism in mice.
Bharathi SS, Zhang BB, Paul E, Zhang Y, Schmidt AV, Fowler B, Wu Y, Tiemeyer M, Inamori KI, Inokuchi JI, Goetzman ES. Bharathi SS, et al. Mol Genet Metab. 2022 Dec;137(4):342-348. doi: 10.1016/j.ymgme.2022.10.006. Epub 2022 Oct 28. Mol Genet Metab. 2022. PMID: 36335793 Free PMC article.
Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
Yang H, Brown RH Jr, Wang D, Strauss KA, Gao G. Yang H, et al. JCI Insight. 2023 May 8;8(9):e168688. doi: 10.1172/jci.insight.168688. JCI Insight. 2023. PMID: 37014712 Free PMC article.
GM3 synthase deficiency (GM3SD) is an infantile-onset epileptic encephalopathy syndrome caused by biallelic loss-of-function mutations in ST3GAL5. ...
GM3 synthase deficiency (GM3SD) is an infantile-onset epileptic encephalopathy syndrome caused by biallelic loss-of-fun …
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927
Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants.
Dookwah M, Wagner SK, Ishihara M, Yu SH, Ulrichs H, Kulik MJ, Zeltner N, Dalton S, Strauss KA, Aoki K, Steet R, Tiemeyer M. Dookwah M, et al. Hum Mol Genet. 2023 Dec 1;32(24):3323-3341. doi: 10.1093/hmg/ddad146. Hum Mol Genet. 2023. PMID: 37676252
GM3 Synthase Deficiency (GM3SD) is a neurodevelopmental disorder resulting from pathogenic variants in the ST3GAL5 gene, which encodes GM3 synthase, a glycosphingolipid (GSL)-specific sialyltransferase. ...
GM3 Synthase Deficiency (GM3SD) is a neurodevelopmental disorder resulting from pathogenic variants in the ST3GAL5 gene …
Ganglioside GM3 deficiency enhances mast cell sensitivity.
Komuro M, Mizugaki H, Nagane M, Morimoto M, Fukuyama T, Ogihara K, Naya Y, Yokomori E, Kaneshima K, Kawakami Y, Kamiie J, Shibata Y, Suzuki M, Shimizu T, Kawashima N, Okamoto M, Ikeda T, Yamashita T. Komuro M, et al. FEBS J. 2023 Sep;290(17):4268-4280. doi: 10.1111/febs.16806. Epub 2023 May 5. FEBS J. 2023. PMID: 37098812
31 results