Dystonia due to GM3 synthase deficiency

2021 ◽  
Author(s):  
Alexander S. Wang ◽  
Camilla Kilbane
Keyword(s):  
Gm3 Synthase

scholarly journals Curcumin Downregulates Human GM3 Synthase (hST3Gal V) Gene Expression with Autophagy Induction in Human Colon Carcinoma HCT116 Cells

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Miri Lee ◽  
Hyunju Choi ◽  
Kyoung-Sook Kim ◽  
Dong-Hyun Kim ◽  
Cheorl-Ho Kim ◽  
...  
Keyword(s):  
Gene Expression ◽  
Colon Carcinoma ◽  
Human Colon ◽  
Luciferase Reporter ◽  
Gm3 Synthase ◽  
Human Colon Carcinoma ◽  
Autophagy Induction ◽  
Promoter Deletion Analysis ◽  
V Gene ◽  
Hct116 Cells

Our recent report showed that curcumin, polyphenolic compound isolated from the herb Curcuma longa, upregulated the gene expression of human GD3 synthase (hST8Sia I) responsible for ganglioside GD3 synthesis with autophagy induction in human lung adenocarcinoma A549 cells. In this study, on the contrary to this finding, we demonstrated that curcumin downregulated the gene expression of human GM3 synthase (hST3Gal V) catalyzing ganglioside GM3 synthesis with autophagy induction in human colon carcinoma HCT116 cells. To clarify the mechanism leading to the downregulation of hST3Gal V gene expression in curcumin-treated HCT116 cells, we analyzed the curcumin-inducible promoter of the hST3Gal V gene by luciferase reporter assays. Promoter deletion analysis demonstrated that the -177 to -83 region, which includes putative binding sites for transcription factors NFY, CREB/ATF, SP1, EGR3, and MZF1, acts as the curcumin-responsive promoter of the hST3Gal V gene. Site-directed mutagenesis and chromatin immunoprecipitation analysis demonstrated that the CREB/ATF binding site at -143 is pivotal for curcumin-induced downregulation of hST3Gal V gene in HCT116 cells. The transcriptional activation of hST3Gal V in HCT116 cells was significantly repressed by an inhibitor of AMP-activated protein kinase (AMPK). These results suggest that AMPK signal pathway mediates hST3Gal V gene expression in HCT116 cells.

scholarly journals Serum Deprivation-Induced Human GM3 Synthase (hST3Gal V) Gene Expression Is Mediated by Runx2 in Human Osteoblastic MG-63 Cells

2015 ◽  
Vol 17 (1) ◽  
pp. 35 ◽  
Author(s):  
Hyun-Kyoung Yoon ◽  
Ji-Won Lee ◽  
Kyoung-Sook Kim ◽  
Seo-Won Mun ◽  
Dong-Hyun Kim ◽  
...  
Keyword(s):  
Gene Expression ◽  
Serum Deprivation ◽  
Gm3 Synthase ◽  
V Gene

Synthesis and Biological Evaluation of Several Dephosphonated Analogues of CMP-Neu5Ac as Inhibitors of GM3-Synthase

2015 ◽  
Vol 21 (41) ◽  
pp. 14614-14629 ◽  
Author(s):  
Paola Rota ◽  
Federica Cirillo ◽  
Marco Piccoli ◽  
Antonio Gregorio ◽  
Guido Tettamanti ◽  
...  
Keyword(s):  
Biological Evaluation ◽  
Gm3 Synthase ◽  
Synthesis And Biological Evaluation

scholarly journals The Cytoplasmic Tail of GM3 Synthase Defines Its Subcellular Localization, Stability, and In Vivo Activity

2009 ◽  
Vol 20 (13) ◽  
pp. 3088-3100 ◽  
Author(s):  
Satoshi Uemura ◽  
Sayaka Yoshida ◽  
Fumi Shishido ◽  
Jin-ichi Inokuchi
Keyword(s):  
Golgi Apparatus ◽  
Cytoplasmic Tail ◽  
Critical Importance ◽  
Leaky Scanning ◽  
Physiological Conditions ◽  
Gm3 Synthase ◽  
Mrna Variants ◽  
Cytoplasmic Tails ◽  
Er Targeting

GM3 synthase (SAT-I) is the primary glycosyltransferase responsible for the biosynthesis of ganglio-series gangliosides. In this study, we identify three isoforms of mouse SAT-I proteins, named M1-SAT-I, M2-SAT-I, and M3-SAT-I, which possess distinct lengths in their NH2-terminal cytoplasmic tails. These isoforms are produced by leaky scanning from mRNA variants of mSAT-Ia and mSAT-Ib. M2-SAT-I and M3-SAT-I were found to be localized in the Golgi apparatus, as expected, whereas M1-SAT-I was exclusively found in the endoplasmic reticulum (ER). Specific multiple arginines (R) arranged in an R-based motif, RRXXXXR necessary for ER targeting, were found in the cytoplasmic tail of M1-SAT-I, and in vivo GM3 biosynthesis by M1-SAT-I was very low because of restricted transport to the Golgi apparatus. In addition, M1-SAT-I and M3-SAT-I had a long half-life relative to M2-SAT-I. This is the first report demonstrating the presence of an ER-targeting R-based motif in the cytoplasmic tail of a protein in the mammalian glycosyltransferase family of enzymes. The system, which produces SAT-I isoforms having distinct characteristics, is likely to be of critical importance for the regulation of GM3 biosynthesis under various pathological and physiological conditions.

Isolation and characterization of the promoter region of the human GM3 synthase gene

2002 ◽  
Vol 1578 (1-3) ◽  
pp. 84-89 ◽  
Author(s):  
Sang-Wan Kim ◽  
Sang-Hyeon Lee ◽  
Kyoung-Sook Kim ◽  
Cheorl-Ho Kim ◽  
Young-Kug Choo ◽  
...  
Keyword(s):  
Promoter Region ◽  
Gm3 Synthase ◽  
Isolation And Characterization

scholarly journals Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

2004 ◽  
Vol 36 (11) ◽  
pp. 1225-1229 ◽  
Author(s):  
Michael A Simpson ◽  
Harold Cross ◽  
Christos Proukakis ◽  
David A Priestman ◽  
David C A Neville ◽  
...  
Keyword(s):  
Epilepsy Syndrome ◽  
Loss Of Function ◽  
Gm3 Synthase ◽  
Symptomatic Epilepsy

scholarly journals Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti

2009 ◽  
Vol 106 (23) ◽  
pp. 9483-9488 ◽  
Author(s):  
M. Yoshikawa ◽  
S. Go ◽  
K. Takasaki ◽  
Y. Kakazu ◽  
M. Ohashi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Organ Of Corti ◽  
Ganglioside Gm3 ◽  
Gm3 Synthase

scholarly journals Valproic acid-mediated transcriptional regulation of human GM3 synthase (hST3Gal V) in SK-N-BE(2)-C human neuroblastoma cells1

2008 ◽  
Vol 29 (9) ◽  
pp. 999-1005 ◽  
Author(s):  
Haw-young KWON ◽  
Nam-young KANG ◽  
Hyun-mi DAE ◽  
Kyoung-sook KIM ◽  
Cheorl-ho KIM ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Transcriptional Regulation ◽  
Human Neuroblastoma ◽  
Gm3 Synthase

scholarly journals Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts

Glycobiology ◽  
2008 ◽  
Vol 18 (8) ◽  
pp. 593-601 ◽  
Author(s):  
Yihui Liu ◽  
Yan Su ◽  
Max Wiznitzer ◽  
Olga Epifano ◽  
Stephan Ladisch
Keyword(s):  
Gm3 Synthase
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