| 1 | EIEE83, UGP2 |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. | |
| Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS. | |
| Acta Neuropathol. Mar;139(3):415-442. doi: 10.1007/s00401-019-02109-6. Epub 2019 Dec 9 2019 | |
| 2 | CFL1, UGP2 |
| Expression of UGP2 and CFL1 expression levels in benign and malignant pancreatic lesions and their clinicopathological significance. | |
| Wang L, Xiong L, Wu Z, Miao X, Liu Z, Li D, Zou Q, Yang Z. | |
| World J Surg Oncol 16(1):11. doi: 10.1186/s12957-018-1316-7. 2018 | |
| 3 | PTPN11, UGP2 |
| SHP2 and UGP2 are Biomarkers for Progression and Poor Prognosis of Gallbladder Cancer. | |
| Wang Q, Yang ZL, Zou Q, Yuan Y, Li J, Liang L, Zeng G, Chen S. | |
| Cancer Invest 34(6):255-64. doi: 10.1080/07357907.2016.1193745. Epub 2016 Jul 7. 2016 | |
| 4 | UGP2 |
| Expression patterns and promoter activity analysis of UGP2 in pigs. | |
| Yu JY, Shao SM, Chen K, Lei MG, Xiong YZ. | |
| Genet Mol Res 13(1):1358-65. doi: 10.4238/2014.February.28.8. 2014 | |
| 5 | UGP2 |
| The crystal structure of human UDP-glucose pyrophosphorylase reveals a latch effect that influences enzymatic activity. | |
| Yu Q, Zheng X. | |
| Biochem J 442(2):283-91. doi: 10.1042/BJ20111598. 2012 | |
| 6 | GBE1, UGP2 |
| Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1. | |
| Pescador N, Villar D, Cifuentes D, Garcia-Rocha M, Ortiz-Barahona A, Vazquez S, Ordoñez A, Cuevas Y, Saez-Morales D, Garcia-Bermejo ML, Landazuri MO, Guinovart J, del Peso L. | |
| PLoS One 5(3):e9644. doi: 10.1371/journal.pone.0009644. 2010 | |
| 7 | AMBRA1, C6orf70, CAMSAP2, CLMP, RPESP, TSPAN10, UGP2 |
| Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. | |
| Wistow G, Bernstein SL, Wyatt MK, Fariss RN, Behal A, Touchman JW, Bouffard G, Smith D, Peterson K. | |
| Mol Vis 8:205-20. 2002 | |
| 8 | UGP2 |
| Localization of the human UGP2 gene encoding the muscle isoform of UDPglucose pyrophosphorylase to 2p13-p14 by fluorescence in situ hybridization. | |
| Cheng SD, et al. | |
| Genomics 39 : 414-416. 1997 | |
| 9 | UGP2 |
| Sequence differences between human muscle and liver cDNAs for UDP glucose pyrophosphorylase and kinetic properties of the recombinant enzymes expressed in Escherichia coli. | |
| Duggleby RG, et al. | |
| Eur J Biochem 235 : 173-179. 1996 | |
| 10 | UGP2 |
| Assignment of a molecular form of UDP glucose pyrophosphorylase (UGPP2) to chromosome 2 in man. | |
| Shows TB, et al. | |
| Cytogenet Cell Genet 22 : 215-218. 1978 | |