222 related articles for article (PubMed ID: 24026681)
1. A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Boccuto L; Aoki K; Flanagan-Steet H; Chen CF; Fan X; Bartel F; Petukh M; Pittman A; Saul R; Chaubey A; Alexov E; Tiemeyer M; Steet R; Schwartz CE
Hum Mol Genet; 2014 Jan; 23(2):418-33. PubMed ID: 24026681
[TBL] [Abstract][Full Text] [Related]
2. 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
Hum Mol Genet; 2023 Dec; 32(24):3323-3341. PubMed ID: 37676252
[TBL] [Abstract][Full Text] [Related]
3. Whole Exome Sequencing Reveals a Novel Homozygous Variant in the Ganglioside Biosynthetic Enzyme,
Abdulkareem AA; Shirah BH; Naseer MI
Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833282
[TBL] [Abstract][Full Text] [Related]
4. 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; Parini R; Domenighini R; Malagolini N; Iascone M; Gasperini S; Masera N; dall'Olio F; Trinchera M
Glycobiology; 2019 Mar; 29(3):229-241. PubMed ID: 30576498
[TBL] [Abstract][Full Text] [Related]
5. GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
Lee JS; Yoo Y; Lim BC; Kim KJ; Song J; Choi M; Chae JH
Am J Med Genet A; 2016 Aug; 170(8):2200-5. PubMed ID: 27232954
[TBL] [Abstract][Full Text] [Related]
6. ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.
Gordon-Lipkin E; Cohen JS; Srivastava S; Soares BP; Levey E; Fatemi A
J Child Neurol; 2018 Nov; 33(13):825-831. PubMed ID: 30185102
[TBL] [Abstract][Full Text] [Related]
7. Identification of a new liver-specific c-type mRNA transcriptional variant for mouse ST3GAL5 (GM3/GM4 synthase).
Shishido F; Uemura S; Nitta T; Inokuchi JI
Glycoconj J; 2017 Oct; 34(5):651-659. PubMed ID: 28808804
[TBL] [Abstract][Full Text] [Related]
8. Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation.
Wang Z; Sun Z; Li AV; Yarema KJ
J Biol Chem; 2006 Sep; 281(37):27016-28. PubMed ID: 16847058
[TBL] [Abstract][Full Text] [Related]
9. Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
Watanabe S; Lei M; Nakagawa E; Takeshita E; Inamori KI; Shishido F; Sasaki M; Mitsuhashi S; Matsumoto N; Kimura Y; Iwasaki M; Takahashi Y; Mizusawa H; Migita O; Ohno I; Inokuchi JI
Brain Dev; 2023 May; 45(5):270-277. PubMed ID: 36690566
[TBL] [Abstract][Full Text] [Related]
10. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
Simpson MA; Cross H; Proukakis C; Priestman DA; Neville DC; Reinkensmeier G; Wang H; Wiznitzer M; Gurtz K; Verganelaki A; Pryde A; Patton MA; Dwek RA; Butters TD; Platt FM; Crosby AH
Nat Genet; 2004 Nov; 36(11):1225-9. PubMed ID: 15502825
[TBL] [Abstract][Full Text] [Related]
11. Mass spectrometric quantification of plasma glycosphingolipids in human GM3 ganglioside deficiency.
Aoki K; Heaps AD; Strauss KA; Tiemeyer M
Clin Mass Spectrom; 2019 Nov; 14 Pt B():106-114. PubMed ID: 34917767
[TBL] [Abstract][Full Text] [Related]
12. Compound heterozygous variants within two conserved sialyltransferase motifs of
Rudy N; Aoki K; Ananth A; Holloway L; Skinner C; Hurst A; Tiemeyer M; Steet R
JIMD Rep; 2023 Mar; 64(2):138-145. PubMed ID: 36873089
[TBL] [Abstract][Full Text] [Related]
13. Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.
Paccalet T; Coulombe Z; Tremblay JP
PLoS One; 2010 Apr; 5(4):e10055. PubMed ID: 20383336
[TBL] [Abstract][Full Text] [Related]
14. Ganglioside GM3 Synthase Deficiency in Mouse Models and Human Patients.
Inamori KI; Inokuchi JI
Int J Mol Sci; 2022 May; 23(10):. PubMed ID: 35628171
[TBL] [Abstract][Full Text] [Related]
15. Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.
Trinchera M; Parini R; Indellicato R; Domenighini R; dall'Olio F
Mol Genet Metab; 2018 Aug; 124(4):230-237. PubMed ID: 29983310
[TBL] [Abstract][Full Text] [Related]
16. Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts.
Liu Y; Su Y; Wiznitzer M; Epifano O; Ladisch S
Glycobiology; 2008 Aug; 18(8):593-601. PubMed ID: 18480157
[TBL] [Abstract][Full Text] [Related]
17. Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery.
Yang H; Brown RH; Wang D; Strauss KA; Gao G
JCI Insight; 2023 May; 8(9):. PubMed ID: 37014712
[TBL] [Abstract][Full Text] [Related]
18. Sex-Specific ADHD-like Behaviour, Altered Metabolic Functions, and Altered EEG Activity in Sialyltransferase ST3GAL5-Deficient Mice.
Strekalova T; Veniaminova E; Svirin E; Kopeikina E; Veremeyko T; Yung AWY; Proshin A; Tan SZK; Khairuddin S; Lim LW; Lesch KP; Walitza S; Anthony DC; Ponomarev ED
Biomolecules; 2021 Nov; 11(12):. PubMed ID: 34944404
[TBL] [Abstract][Full Text] [Related]
19. Early growth and development impairments in patients with ganglioside GM3 synthase deficiency.
Wang H; Wang A; Wang D; Bright A; Sency V; Zhou A; Xin B
Clin Genet; 2016 May; 89(5):625-9. PubMed ID: 26649472
[TBL] [Abstract][Full Text] [Related]
20. Enhanced Susceptibility to Chemoconvulsant-Induced Seizures in Ganglioside GM3 Synthase Knockout Mice.
Tang FL; Wang J; Itokazu Y; Yu RK
ASN Neuro; 2020; 12():1759091420938175. PubMed ID: 32664815
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
