| 1 | CMSTA1, GFPT1
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| Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation
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| Jiang K, Zheng Y, Lin J, Wu X, Yu Y, Zhu M, Fang X, Zhou M, Li X, Hong D.
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| Brain Behav. Jan 3:e2469. doi: 10.1002/brb3.2469. Epub ahead of print. PMID: 2022
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| 2 | CMSTA1, GFPT1
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| Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.
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| Ma Y, Xiong T, Lei G, Ding J, Yang R, Li Z, Guo J, Shen D.
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| Neurol Sci. Aug;42(8):3485-3490. doi: 10.1007/s10072-020-05021-0. Epub 2021 Jan 13. 2021
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| 3 | GFPT1
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| Iron Deficiency Reprograms Phosphorylation Signaling and Reduces O-GlcNAc Pathways in Neuronal Cells.
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| Erber LN, Luo A, Gong Y, Beeson M, Tu M, Tran P, Chen Y.
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| Nutrients. Jan 8;13(1):179. doi: 10.3390/nu13010179. 2021
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| 4 | GFPT1
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| Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome
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| Helman G, Sharma S, Crawford J, Patra B, Jain P, Bent SJ, Urtizberea JA, Saran RK, Taft RJ, van der Knaap MS, Simons C.
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| Neurology. Feb 5;92(6):e587-e593. doi: 10.1212/WNL.0000000000006886. Epub 2019 Jan 11. 2019
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| 5 | GFPT1
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| GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
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| Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H.
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| Hum Mol Genet. Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. 2018
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| 6 | GFPT1
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| GFAT1 phosphorylation by AMPK promotes VEGF-induced angiogenesis
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| Zibrova D, Vandermoere F, Göransson O, Peggie M, Mariño KV, Knierim A, Spengler K, Weigert C, Viollet B, Morrice NA, Sakamoto K, Heller R.
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| Biochem J. Mar 7;474(6):983-1001. doi: 10.1042/BCJ20160980. 2017
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| 7 | GFPT1
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| High expression of GFAT1 predicts poor prognosis in patients with pancreatic cancer.
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| Yang C, Peng P, Li L, Shao M, Zhao J, Wang L, Duan F, Song S, Wu H, Zhang J, Zhao R, Jia D, Zhang M, Wu W, Li C, Rong Y, Zhang L, Ruan Y, Gu J.
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| Sci Rep. Dec 20;6:39044. doi: 10.1038/srep39044. 2016
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| 8 | CMSTA1, GFPT1
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| Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
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| Zoltowska K, Webster R, Finlayson S, Maxwell S, Cossins J, Müller J, Lochmüller H, Beeson D.
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| Hum Mol Genet. Jul 15;22(14):2905-13. doi: 10.1093/hmg/ddt145. Epub 2013 Apr 8. 2013
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| 9 | CMSTA1, CMSTA2, DPAGT1, GFPT1
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| Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates.
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| Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D.
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| Am J Hum Genet 91(1):193-201. Epub 2012 Jun 27.
2012
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| 10 | GFPT1, PRKAA2, PRKAB1
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| AMP-activated protein kinase phosphorylates glutamine : fructose-6-phosphate amidotransferase 1 at Ser243 to modulate its enzymatic activity.
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| Eguchi S, Oshiro N, Miyamoto T, Yoshino K, Okamoto S, Ono T, Kikkawa U, Yonezawa K.
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| Genes Cells 14(2):179-89. Epub 2008 Jan 6. 2009
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| 11 | GFPT1
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| Structural analysis of human glutamine:fructose-6-phosphate amidotransferase, a key regulator in type 2 diabetes.
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| Nakaishi Y, Bando M, Shimizu H, Watanabe K, Goto F, Tsuge H, Kondo K, Komatsu M.
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| FEBS Lett 583(1):163-7. Epub 2008 Dec 6.PMID: 19059404 2009
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| 12 | GFPT1
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| Identification of a novel serine phosphorylation site in human glutamine:fructose-6-phosphate amidotransferase isoform 1.
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| Li Y, Roux C, Lazereg S, LeCaer JP, Laprévote O, Badet B, Badet-Denisot MA.
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| Biochemistry 46(45):13163-9. Epub 2007 Oct 17.PMID: 17941647 2007
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| 13 | GFPT1
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| Effect of +36T>C in intron 1 on the glutamine: fructose-6-phosphate amidotransferase 1 gene and its contribution to type 2 diabetes in different populations.
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| Kunika K, Tanahashi T, Kudo E, Mizusawa N, Ichiishi E, Nakamura N, Yoshikawa T, Yamaoka T, Yasumo H, Tsugawa K, Moritani M, Inoue H, Itakura M.
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| J Hum Genet 51(12):1100-9. Epub 2006 Sep 26.PMID: 17024311 2006
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| 14 | GFPT1
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| Partial characterisation of the human GFAT promoter: effect of single nucleotide polymorphisms on promoter function.
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| Burt D, Brodbeck K, Haring HU, Schleicher ED, Weigert C.
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| Biochim Biophys Acta 1740(1):85-90. Epub 2005 Feb 12. 2005
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| 15 | GFPT1
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| Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy.
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| Elbein SC, Zheng H, Jia Y, Chu W, Cooper JJ, Hale T, Zhang Z.
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| Mol Genet Metab 82(4):321-8. 2004
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| 16 | GFPT1
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| Identification of GFAT1-L, a novel splice variant of human glutamine: fructose-6-phosphate amidotransferase (GFAT1) that is expressed abundantly in skeletal muscle.
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| Niimi M, Ogawara T, Yamashita T, Yamamoto Y, Ueyama A, Kambe T, Okamoto T, Ban T, Tamanoi H, Ozaki K, Fujiwara T, Fukui H, Takahashi EI, Kyushiki H, Tanigami A.
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| J Hum Genet 46(10):566-71. 2001
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| 17 | GFPT2, GFPT1
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| cDNA cloning and mapping of a novel subtype of glutamine:fructose-6-phosphate amidotransferase (GFAT2) in human and mouse.
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| Oki T, et al.
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| Genomics 57(2):227-34. 1999
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| 18 | GFPT1
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| Physical mapping of the human glutamine : fructose-6-phosphate amidotransferase gene (GFPT) to chromosome 2p13.
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| Whitmore TE, et al.
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| Genomics 26 : 422-423. 1995
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| 19 | GFPT1
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| Human glutamine : fructose-6-phosphate amidotransferase : characterization of mRNA and chromosomal assignment to 2p13.
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| Zhou J, et al.
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| Hum Genet 96 : 99-101. 1995
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