| Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review. | Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.
Wang Z, Zhao R, Jia X, Li X, Ma L, Fu H., Free PMC Article | 12/20/2023 |
| Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b). | Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
Eghbali M, Abiri M, Talebi S, Noroozi Z, Shakiba M, Rostami P, Alimadadi H, Najafi M, Yazarlou F, Rabbani A, Modarressi MH., Free PMC Article | 08/7/2021 |
| A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis. | A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.
Xu Q, Tang H, Duan L, Zuo X, Shi X, Li Y, Zhao H, Zhang H., Free PMC Article | 08/7/2021 |
| A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. | A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D, University of Washington Center for Mendelian Genomics (UW-CMG), Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH., Free PMC Article | 07/3/2021 |
| In SLC37A4 gene, 6 variants were detected. Three previously reported variants c.81T>A (p.Asn27Lys), c.162C>A (p.Ser54Arg) and c.1042_1043delCT (p.Leu348Valfs*53) accounted for 87% of all analyzed alleles. Computational, transcription studies and/or clinical presentation in patients confirmed pathogenic effect of 3 novel variants. | Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
Skakic A, Djordjevic M, Sarajlija A, Klaassen K, Tosic N, Kecman B, Ugrin M, Spasovski V, Pavlovic S, Stojiljkovic M. | 08/3/2019 |
| Study established a cellular model system characterized by a deficiency of SLC37A4, which presents pathological manifestations of GSD Ib in the kidney. Expression analysis in a novel model system supports the hypothesis that renal dysfunction in the GSD Ib is partly due to the ER stress and increased apoptosis. | CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.
Skakic A, Andjelkovic M, Tosic N, Klaassen K, Djordjevic M, Pavlovic S, Stojiljkovic M. | 05/18/2019 |
| Study demonstrates that G6PT is essential for proliferation and differentiation of adipose-derived mesenchymal stem cells , providing important insights into the GSD-Ib phenotypes. | Aberrant proliferation and differentiation of glycogen storage disease type Ib mesenchymal stem cells.
Sim SW, Park TS, Kim SJ, Park BC, Weinstein DA, Lee YM, Jun HS. | 12/22/2018 |
| We report the MFRP-related ocular phenotype in three siblings with glycogen storage disease type 1b. Molecular genetic studies identified novel mutations in the MFRP and SLC37A4 genes. | Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
Mameesh M, Ganesh A, Harikrishna B, Al Zuhaibi S, Scott P, Al Kalbani S, Al Thihli K. | 12/2/2017 |
| The most common mutation of SLC37A4 genes identified in Korean patients was c.443C>T (p.Ala148Val), accounting for 55.6% (5/9 patients) of all GSD Ib patients and 38.9% of the tested alleles | Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.
Choi R, Park HD, Ko JM, Lee J, Lee DH, Hong SJ, Ki CS, Lee SY, Kim JW, Song J, Choe YH., Free PMC Article | 03/18/2017 |
| Post-translational regulation of the glucose-6-phosphatase complex by cyclic AMP is a crucial determinant of endogenous glucose production and is controlled by the glucose-6-phosphate transporter. | Post-Translational Regulation of the Glucose-6-Phosphatase Complex by Cyclic Adenosine Monophosphate Is a Crucial Determinant of Endogenous Glucose Production and Is Controlled by the Glucose-6-Phosphate Transporter.
Soty M, Chilloux J, Delalande F, Zitoun C, Bertile F, Mithieux G, Gautier-Stein A. | 12/17/2016 |
| Data suggest that G6PT modulates autophagy independent of its transport activity; G6PT appears to up-regulate autophagy via inactivation of mTORC1; knockdown of G6PT expression activates mTORC1 (mechanistic target of rapamycin complex 1) activity. | Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step.
Ahn HH, Oh Y, Lee H, Lee W, Chang JW, Pyo HK, Nah do H, Jung YK. | 10/17/2015 |
| Five SLC37A4 gene mutations were detected in 7 (25%) of the 28 children | [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
Liang CL, Liu L, Sheng HY, Jiang MY, Yin X, Mei HF, Cheng J, Zhang W, Fan LP. | 12/7/2013 |
| A total of 11 SLC37A4 gene mutations were identified in 15 families of the mainland of China. The frequent mutations are p.Pro191Leu, p.Gly149Glu and c.870 + 5G > A. | [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].
Qiu ZQ, Lu CX, Wang W, Qiu JJ, Wei M. | 11/5/2011 |
| Two novel mutations were identified in these samples: one had a novel mutation (25C>T); the remaining sample carried a 49 bp deletion in intron 12. | Two new variants of G6PD deficiencies in Singapore.
Hamada M, Shirakawa T, Poh-San L, Nishiyama K, Uga S, Matsuo M. | 06/4/2011 |
| Our results suggest that in Sardinia, Glycogen storage disease Ib is caused by only one mutational event in the G6PT gene, further suggesting that Sardinia is a founder population. | Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect.
Zappu A, Lilliu F, Podda RA, Loudianos G. | 10/23/2010 |
| Human G6PT contains 10-transmembrane helices and is more probable than the bacterial Uhp that contains 12-transmembrane helices. | Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib.
Pan CJ, Chen SY, Lee S, Chou JY., Free PMC Article | 01/21/2010 |
| Targeted inhibition of either MT1-MMP or G6PT may lead to reduced infiltrative and invasive properties of brain tumor cells. | Silencing of the MT1-MMP/ G6PT axis suppresses calcium mobilization by sphingosine-1-phosphate in glioblastoma cells.
Fortier S, Labelle D, Sina A, Moreau R, Annabi B. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.
Forsyth L, Scott HM, Howatson A, Busuttil A, Hume R, Burchell A, Forsyth L, Scott HM, Howatson A, Busuttil A, Hume R, Burchell A. Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.
Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A. | 03/13/2008 |
| operates by a similar antiport mechanism as its E. coli homologue, namely, the substrate binds at the N- and C-terminal domain interface and is then transported across the membrane via a rocker-switch type of movement of the two domains | Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.
Almqvist J, Huang Y, Hovmöller S, Wang DN. | 01/21/2010 |
| mutational analysis of G6PT1 in type I glycogen storage disease | Mutation spectrum of type I glycogen storage disease in Hungary.
Miltenberger-Miltenyi G, Szonyi L, Balogh L, Utermann G, Janecke AR. | 01/21/2010 |
| A novel G6PT1 promoter polymorphism, 259C --> T was found; the - 259*T allele frequency was greater in term SIDS infants than in term control infants and preterm SIDS infants | Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome.
Forsyth L, Scott HM, Howatson A, Busuttil A, Hume R, Burchell A, Forsyth L, Scott HM, Howatson A, Busuttil A, Hume R, Burchell A. | 01/21/2010 |
| A molecular signaling axis regulates the invasive phenotype of brain tumor cells and highlights a new bioswitch function for glucose-6-phosphate transporter (G6PT) in cell survival. | Necrosis induction in glioblastoma cells reveals a new "bioswitch" function for the MT1-MMP/G6PT signaling axis in proMMP-2 activation versus cell death decision.
Belkaid A, Fortier S, Cao J, Annabi B., Free PMC Article | 01/21/2010 |
| Overexpression of recombinant glucose-6-phosphate translocase rescued the cells from curcumin-induced cell death [ glucose-6-phosphate translocase] | Silencing of the human microsomal glucose-6-phosphate translocase induces glioma cell death: potential new anticancer target for curcumin.
Belkaid A, Copland IB, Massillon D, Annabi B. | 01/21/2010 |