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Items: 1 to 20 of 33

1.

The metabolic origins of mannose in glycoproteins.

Ichikawa M, Scott DA, Losfeld ME, Freeze HH.

J Biol Chem. 2014 Mar 7;289(10):6751-61. doi: 10.1074/jbc.M113.544064. Epub 2014 Jan 9.

2.

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].

3.

Computational study of human phosphomannose isomerase: Insights from homology modeling and molecular dynamics simulation of enzyme bound substrate.

Xiao J, Guo Z, Guo Y, Chu F, Sun P.

J Mol Graph Model. 2006 Nov;25(3):289-95. Epub 2006 Feb 20.

PMID:
16488169
4.

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib.

Vuillaumier-Barrot S, Le Bizec C, de Lonlay P, Barnier A, Mitchell G, Pelletier V, Prevost C, Saudubray JM, Durand G, Seta N.

J Med Genet. 2002 Nov;39(11):849-51. No abstract available.

5.

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
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.

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, Carchon H, Schollen E, Van Schaftingen E.

Am J Hum Genet. 1998 Jun;62(6):1535-9. No abstract available.

8.

Direct utilization of mannose for mammalian glycoprotein biosynthesis.

Alton G, Hasilik M, Niehues R, Panneerselvam K, Etchison JR, Fana F, Freeze HH.

Glycobiology. 1998 Mar;8(3):285-95.

PMID:
9451038
9.

Purification, cDNA cloning and heterologous expression of human phosphomannose isomerase.

Proudfoot AE, Turcatti G, Wells TN, Payton MA, Smith DJ.

Eur J Biochem. 1994 Jan 15;219(1-2):415-23.

11.
12.

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
13.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.

de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V.

J Med Genet. 2001 Jan;38(1):14-9.

14.

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T.

J Clin Invest. 1998 Apr 1;101(7):1414-20.

15.

DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).

Schollen E, Martens K, Geuzens E, Matthijs G.

Eur J Hum Genet. 2002 Oct;10(10):643-8.

16.

MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect.

Shtraizent N, DeRossi C, Nayar S, Sachidanandam R, Katz LS, Prince A, Koh AP, Vincek A, Hadas Y, Hoshida Y, Scott DK, Eliyahu E, Freeze HH, Sadler KC, Chu J.

Elife. 2017 Jun 23;6. pii: e22477. doi: 10.7554/eLife.22477.

17.

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview.

Sparks SE, Krasnewich DM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2005 Aug 15 [updated 2017 Jan 12].

18.

A whole genome screen for HIV restriction factors.

Liu L, Oliveira NM, Cheney KM, Pade C, Dreja H, Bergin AM, Borgdorff V, Beach DH, Bishop CL, Dittmar MT, McKnight A.

Retrovirology. 2011 Nov 14;8:94. doi: 10.1186/1742-4690-8-94.

19.

Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".

Johnatty SE, Beesley J, Chen X, Macgregor S, Duffy DL, Spurdle AB, deFazio A, Gava N, Webb PM, Rossing MA, Doherty JA, Goodman MT, Lurie G, Thompson PJ, Wilkens LR, Ness RB, Moysich KB, Chang-Claude J, Wang-Gohrke S, Cramer DW, Terry KL, Hankinson SE, Tworoger SS, Garcia-Closas M, Yang H, Lissowska J, Chanock SJ, Pharoah PD, Song H, Whitemore AS, Pearce CL, Stram DO, Wu AH, Pike MC, Gayther SA, Ramus SJ, Menon U, Gentry-Maharaj A, Anton-Culver H, Ziogas A, Hogdall E, Kjaer SK, Hogdall C, Berchuck A, Schildkraut JM, Iversen ES, Moorman PG, Phelan CM, Sellers TA, Cunningham JM, Vierkant RA, Rider DN, Goode EL, Haviv I, Chenevix-Trench G; Ovarian Cancer Association Consortium; Australian Ovarian Cancer Study Group; Australian Cancer Study (Ovarian Cancer).

PLoS Genet. 2010 Jul 8;6(7):e1001016. doi: 10.1371/journal.pgen.1001016.

20.

hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.

Lamesch P, Li N, Milstein S, Fan C, Hao T, Szabo G, Hu Z, Venkatesan K, Bethel G, Martin P, Rogers J, Lawlor S, McLaren S, Dricot A, Borick H, Cusick ME, Vandenhaute J, Dunham I, Hill DE, Vidal M.

Genomics. 2007 Mar;89(3):307-15. Epub 2007 Jan 5.

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