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Items: 1 to 20 of 233

1.

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality.

DeRossi C, Bode L, Eklund EA, Zhang F, Davis JA, Westphal V, Wang L, Borowsky AD, Freeze HH.

J Biol Chem. 2006 Mar 3;281(9):5916-27. Epub 2005 Dec 8.

2.

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice.

Sharma V, Nayak J, DeRossi C, Charbono A, Ichikawa M, Ng BG, Grajales-Esquivel E, Srivastava A, Wang L, He P, Scott DA, Russell J, Contreras E, Guess CM, Krajewski S, Del Rio-Tsonis K, Freeze HH.

FASEB J. 2014 Apr;28(4):1854-69. doi: 10.1096/fj.13-245514. Epub 2014 Jan 13.

3.

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.

Sharma V, Ichikawa M, He P, Scott DA, Bravo Y, Dahl R, Ng BG, Cosford ND, Freeze HH.

J Biol Chem. 2011 Nov 11;286(45):39431-8. doi: 10.1074/jbc.M111.285502. Epub 2011 Sep 26. Erratum in: J Biol Chem. 2011 Dec 16;286(50):43588. Scott, David A [added].

4.

A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.

Chu J, Mir A, Gao N, Rosa S, Monson C, Sharma V, Steet R, Freeze HH, Lehrman MA, Sadler KC.

Dis Model Mech. 2013 Jan;6(1):95-105. doi: 10.1242/dmm.010116. Epub 2012 Aug 16.

5.

The relative contribution of mannose salvage pathways to glycosylation in PMI-deficient mouse embryonic fibroblast cells.

Fujita N, Tamura A, Higashidani A, Tonozuka T, Freeze HH, Nishikawa A.

FEBS J. 2008 Feb;275(4):788-98. doi: 10.1111/j.1742-4658.2008.06246.x. Epub 2008 Jan 22.

6.

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

Schollen E, Dorland L, de Koning TJ, Van Diggelen OP, Huijmans JG, Marquardt T, Babovic-Vuksanovic D, Patterson M, Imtiaz F, Winchester B, Adamowicz M, Pronicka E, Freeze H, Matthijs G.

Hum Mutat. 2000 Sep;16(3):247-52. Review.

PMID:
10980531
7.
8.

Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts.

Higashidani A, Bode L, Nishikawa A, Freeze HH.

Mol Genet Metab. 2009 Apr;96(4):268-72. doi: 10.1016/j.ymgme.2008.12.005. Epub 2009 Jan 20.

9.

Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation.

Westphal V, Kjaergaard S, Davis JA, Peterson SM, Skovby F, Freeze HH.

Mol Genet Metab. 2001 May;73(1):77-85.

PMID:
11350186
10.

N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response.

He P, Srikrishna G, Freeze HH.

Glycobiology. 2014 Apr;24(4):392-8. doi: 10.1093/glycob/cwu006. Epub 2014 Jan 28.

11.

Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).

Schroeder AS, Kappler M, Bonfert M, Borggraefe I, Schoen C, Reiter K.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S497-502. doi: 10.1007/s10545-010-9252-x. Epub 2011 Jan 16.

PMID:
21240668
12.

Enzymes of mannose metabolism in murine and human lymphocytic leukaemia.

de la Fuente M, Hernanz A.

Br J Cancer. 1988 Nov;58(5):567-9.

13.
14.

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.

de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, Duran M, van den Berg IE, Gerwig GJ, Berger R, Poll-The BT.

Biochem Biophys Res Commun. 1998 Apr 7;245(1):38-42.

PMID:
9535779
15.

Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption.

Helander A, Jaeken J, Matthijs G, Eggertsen G.

Clin Chim Acta. 2014 Apr 20;431:15-8. doi: 10.1016/j.cca.2014.01.018. Epub 2014 Feb 6.

PMID:
24508628
16.

Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomerase.

Davis JA, Wu XH, Wang L, DeRossi C, Westphal V, Wu R, Alton G, Srikrishna G, Freeze HH.

Glycobiology. 2002 Jul;12(7):435-42.

PMID:
12122025
18.

Characterization of the Aspergillus fumigatus phosphomannose isomerase Pmi1 and its impact on cell wall synthesis and morphogenesis.

Fang W, Yu X, Wang B, Zhou H, Ouyang H, Ming J, Jin C.

Microbiology. 2009 Oct;155(Pt 10):3281-93. doi: 10.1099/mic.0.029975-0. Epub 2009 Jul 2.

PMID:
19574302
19.

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency.

Harms HK, Zimmer KP, Kurnik K, Bertele-Harms RM, Weidinger S, Reiter K.

Acta Paediatr. 2002;91(10):1065-72.

PMID:
12434892
20.

Saving lives with sugar.

Alper J.

Science. 2001 Mar 23;291(5512):2339. No abstract available.

PMID:
11269309

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