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Items: 1 to 20 of 105

1.

Glucose-6-phosphate isomerase deficiency results in mTOR activation, failed translocation of lipin 1α to the nucleus and hypersensitivity to glucose: Implications for the inherited glycolytic disease.

Haller JF, Krawczyk SA, Gostilovitch L, Corkey BE, Zoeller RA.

Biochim Biophys Acta. 2011 Nov;1812(11):1393-402. doi: 10.1016/j.bbadis.2011.07.007. Epub 2011 Jul 21.

2.

Isolation of novel animal cell lines defective in glycerolipid biosynthesis reveals mutations in glucose-6-phosphate isomerase.

Haller JF, Smith C, Liu D, Zheng H, Tornheim K, Han GS, Carman GM, Zoeller RA.

J Biol Chem. 2010 Jan 8;285(2):866-77. doi: 10.1074/jbc.M109.068213. Epub 2009 Nov 10.

3.

Glucose-6-phosphate isomerase deficiency.

Kugler W, Lakomek M.

Baillieres Best Pract Res Clin Haematol. 2000 Mar;13(1):89-101. Review.

PMID:
10916680
5.

Conserved residues in the N terminus of lipin-1 are required for binding to protein phosphatase-1c, nuclear translocation, and phosphatidate phosphatase activity.

Kok BP, Skene-Arnold TD, Ling J, Benesch MG, Dewald J, Harris TE, Holmes CF, Brindley DN.

J Biol Chem. 2014 Apr 11;289(15):10876-86. doi: 10.1074/jbc.M114.552612. Epub 2014 Feb 20.

6.

Hereditary non-spherocytic hemolytic anemia and severe glucose phosphate isomerase deficiency in an Indian patient homozygous for the L487F mutation in the human GPI gene.

Warang P, Kedar P, Ghosh K, Colah RB.

Int J Hematol. 2012 Aug;96(2):263-7. doi: 10.1007/s12185-012-1122-x. Epub 2012 Jul 11.

PMID:
22782259
7.

Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study.

Manco L, Bento C, Victor BL, Pereira J, Relvas L, Brito RM, Seabra C, Maia TM, Ribeiro ML.

Blood Cells Mol Dis. 2016 Sep;60:18-23. doi: 10.1016/j.bcmd.2016.06.002. Epub 2016 Jun 11.

PMID:
27519939
8.
9.
10.

Glucose phosphate isomerase deficiency: biochemical and molecular genetic studies on the enzyme variants of two patients with severe haemolytic anaemia.

Huppke P, Wünsch D, Pekrun A, Kind R, Winkler H, Schröter W, Lakomek M.

Eur J Pediatr. 1997 Aug;156(8):605-9.

PMID:
9266190
11.

Mouse lipin-1 and lipin-2 cooperate to maintain glycerolipid homeostasis in liver and aging cerebellum.

Dwyer JR, Donkor J, Zhang P, Csaki LS, Vergnes L, Lee JM, Dewald J, Brindley DN, Atti E, Tetradis S, Yoshinaga Y, De Jong PJ, Fong LG, Young SG, Reue K.

Proc Natl Acad Sci U S A. 2012 Sep 11;109(37):E2486-95. doi: 10.1073/pnas.1205221109. Epub 2012 Aug 20.

12.

A conserved serine residue is required for the phosphatidate phosphatase activity but not the transcriptional coactivator functions of lipin-1 and lipin-2.

Donkor J, Zhang P, Wong S, O'Loughlin L, Dewald J, Kok BP, Brindley DN, Reue K.

J Biol Chem. 2009 Oct 23;284(43):29968-78. doi: 10.1074/jbc.M109.023663. Epub 2009 Aug 28.

13.

Combined glucose phosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of erythrocytes.

Steiman I, Kaufman S, Zaidman JL, Leiba H.

Isr J Med Sci. 1978 Nov;14(11):1186-90.

PMID:
750548
14.

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.

Repiso A, Oliva B, Vives-Corrons JL, Beutler E, Carreras J, Climent F.

Hum Mutat. 2006 Nov;27(11):1159.

PMID:
17041899
16.

Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants.

Eber SW, Gahr M, Lakomek M, Prindull G, Schröter W.

Blut. 1986 Jul;53(1):21-8.

PMID:
3719111
17.

Molecular basis of neurological dysfunction coupled with haemolytic anaemia in human glucose-6-phosphate isomerase (GPI) deficiency.

Kugler W, Breme K, Laspe P, Muirhead H, Davies C, Winkler H, Schröter W, Lakomek M.

Hum Genet. 1998 Oct;103(4):450-4.

PMID:
9856489
18.

Glucose phosphate isomerase deficiency: enzymatic and familial characterization of Arg346His mutation.

Repiso A, Oliva B, Vives Corrons JL, Carreras J, Climent F.

Biochim Biophys Acta. 2005 Jun 10;1740(3):467-71. Epub 2004 Oct 29.

19.

[Glucose phosphate isomerase deficiency with congenital nonspherocytic hemolytic anemia].

Shalev O, Leibowitz G, Brok-Simoni F.

Harefuah. 1994 Jun 15;126(12):699-702, 764, 763. Hebrew.

PMID:
7927011

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