| Genetic adaptation of skin pigmentation in highland Tibetans. | Genetic adaptation of skin pigmentation in highland Tibetans.
Yang Z, Bai C, Pu Y, Kong Q, Guo Y, Ouzhuluobu, Gengdeng, Liu X, Zhao Q, Qiu Z, Zheng W, He Y, Lin Y, Deng L, Zhang C, Xu S, Peng Y, Xiang K, Zhang X, Baimayangji, Cirenyangji, Cui C, Baimakangzhuo, Gonggalanzi, Bianba, Pan Y, Xin J, Wang Y, Liu S, Wang L, Guo H, Feng Z, Wang S, Shi H, Jiang B, Wu T, Qi X, Su B., Free PMC Article | 10/8/2022 |
| Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels. | Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.
Secondes ES, Wallace DF, Rishi G, McLaren GD, McLaren CE, Chen WP, Ramm LE, Powell LW, Ramm GA, Barton JC, Subramaniam VN., Free PMC Article | 05/29/2021 |
| Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis. | Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis.
Gu L, Zhu Y, Lin X, Tan X, Lu B, Li Y. | 01/16/2021 |
| GNPAT and USP30-mediated stabilization of DRP1 play a critical role in the development of hepatocellular carcinoma | Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis.
Gu L, Zhu Y, Lin X, Li Y, Cui K, Prochownik EV, Li Y. | 10/12/2019 |
| GNPAT p.D519G is strongly associated with markedly increased iron stores in p.C282Y homozygotes after correction for age, iron-related variables, and alcohol consumption. | GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes.
Barton JC, Chen WP, Emond MJ, Phatak PD, Subramaniam VN, Adams PC, Gurrin LC, Anderson GJ, Ramm GA, Powell LW, Allen KJ, Phillips JD, Parker CJ, McLaren GD, McLaren CE., Free PMC Article | 01/13/2018 |
| GNPAT rs11558492 is not a major modifier of iron status and is not associated with liver fibrosis in HFE-related Hemochromatosis patients. | GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.
Greni F, Valenti L, Mariani R, Pelloni I, Rametta R, Busti F, Ravasi G, Girelli D, Fargion S, Galimberti S, Piperno A, Pelucchi S. | 10/28/2017 |
| Here, we report the characterization of the recombinant human DHAP acyl-transferase, which performs the first step in alkyl-DHAP synthesis. | Recombinant human dihydroxyacetonephosphate acyl-transferase characterization as an integral monotopic membrane protein.
Piano V, Nenci S, Magnani F, Aliverti A, Mattevi A., Free PMC Article | 05/27/2017 |
| Reduction of GNPAT activated NF-kappaB in glial cell lines and microglia in cortex. | Reduction of Ether-Type Glycerophospholipids, Plasmalogens, by NF-κB Signal Leading to Microglial Activation.
Hossain MS, Abe Y, Ali F, Youssef M, Honsho M, Fujiki Y, Katafuchi T., Free PMC Article | 04/22/2017 |
| C282Y homozygotes referred for HFE testing commonly have a GNPAT variant. This GNPAT variant does not appear be a co-modifying gene affecting expression of HFE related hemochromatosis in this population. The GNPAT variant does not predict the severity of iron overload. | GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
Levstik A, Stuart A, Adams PC. | 03/4/2017 |
| The variant of the GNPAT gene showed the most significant association with severe iron overload. | Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD., Free PMC Article | 10/17/2015 |
| ACOX1 and GNPAT silencing up-regulated ceramide galactosyltransferase (UGT8) mRNA expression, and down-regulated UDP-glucoseceramide glucosyltransferase (UGCG). | Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome.
Miyazaki C, Saitoh M, Itoh M, Yamashita S, Miyagishi M, Takashima S, Moser AB, Iwamori M, Mizuguchi M. | 05/17/2014 |
| Novel mutations in GNPAT cause rhizomelic chondrodysplasia punctata (RCDP) type 2. | Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N. | 04/28/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | A single nucleotide polymorphism fine mapping study of chromosome 1q42.1 reveals the vulnerability genes for schizophrenia, GNPAT and DISC1: Association with impairment of sustained attention.
Liu YL, Fann CS, Liu CM, Chen WJ, Wu JY, Hung SI, Chen CH, Jou YS, Liu SK, Hwang TJ, Hsieh MH, Ouyang WC, Chan HY, Chen JJ, Yang WC, Lin CY, Lee SF, Hwu HG, Liu YL, Fann CS, Liu CM, Chen WJ, Wu JY, Hung SI, Chen CH, Jou YS, Liu SK, Hwang TJ, Hsieh MH, Ouyang WC, Chan HY, Chen JJ, Yang WC, Lin CY, Lee SF, Hwu HG. | 03/13/2008 |
| peroxisomal DHAPAT is essential for the biosynthesis of plasmalogens in animal cells | Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids.
Liu D, Nagan N, Just WW, Rodemer C, Thai TP, Zoeller RA. | 01/21/2010 |
| Chromosome 1q42.1 harbors GNPAT and DISC1 as candidate genes for schizophrenia. | A single nucleotide polymorphism fine mapping study of chromosome 1q42.1 reveals the vulnerability genes for schizophrenia, GNPAT and DISC1: Association with impairment of sustained attention.
Liu YL, Fann CS, Liu CM, Chen WJ, Wu JY, Hung SI, Chen CH, Jou YS, Liu SK, Hwang TJ, Hsieh MH, Ouyang WC, Chan HY, Chen JJ, Yang WC, Lin CY, Lee SF, Hwu HG, Liu YL, Fann CS, Liu CM, Chen WJ, Wu JY, Hung SI, Chen CH, Jou YS, Liu SK, Hwang TJ, Hsieh MH, Ouyang WC, Chan HY, Chen JJ, Yang WC, Lin CY, Lee SF, Hwu HG. | 01/21/2010 |