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Results: 1 to 20 of 133

1.

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].

PMID:
21949237
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.

Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R.

Mol Biol Cell. 2012 Nov;23(21):4175-87. doi: 10.1091/mbc.E12-05-0411. Epub 2012 Sep 5.

PMID:
22956764
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
22899857
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
16339137
[PubMed - indexed for MEDLINE]
Free Article
5.

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.

PMID:
19157945
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
24421398
[PubMed - indexed for MEDLINE]
7.

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.

Eklund EA, Merbouh N, Ichikawa M, Nishikawa A, Clima JM, Dorman JA, Norberg T, Freeze HH.

Glycobiology. 2005 Nov;15(11):1084-93. Epub 2005 Aug 3.

PMID:
16079417
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance.

Jaeken J, Pirard M, Adamowicz M, Pronicka E, van Schaftingen E.

Pediatr Res. 1996 Nov;40(5):764-6.

PMID:
8910943
[PubMed - indexed for MEDLINE]
11.
12.

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.

Freeze HH.

Biochim Biophys Acta. 2009 Sep;1792(9):835-40. doi: 10.1016/j.bbadis.2009.01.004. Review.

PMID:
19339218
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
24474243
[PubMed - in process]
14.

Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia.

Dahl R, Bravo Y, Sharma V, Ichikawa M, Dhanya RP, Hedrick M, Brown B, Rascon J, Vicchiarelli M, Mangravita-Novo A, Yang L, Stonich D, Su Y, Smith LH, Sergienko E, Freeze HH, Cosford ND.

J Med Chem. 2011 May 26;54(10):3661-8. doi: 10.1021/jm101401a. Epub 2011 May 3.

PMID:
21539312
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG).

Rush JS, Panneerselvam K, Waechter CJ, Freeze HH.

Glycobiology. 2000 Aug;10(8):829-35.

PMID:
10929009
[PubMed - indexed for MEDLINE]
Free Article
16.

Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH.

Genet Med. 2001 Nov-Dec;3(6):393-8.

PMID:
11715002
[PubMed - indexed for MEDLINE]
17.

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice.

Schneider A, Thiel C, Rindermann J, DeRossi C, Popovici D, Hoffmann GF, Gröne HJ, Körner C.

Nat Med. 2011 Dec 11;18(1):71-3. doi: 10.1038/nm.2548.

PMID:
22157680
[PubMed - indexed for MEDLINE]
18.

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.

Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH.

Hum Mol Genet. 2002 Mar 1;11(5):599-604.

PMID:
11875054
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
20.

Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts.

Sala G, Dupré T, Seta N, Codogno P, Ghidoni R.

Pediatr Res. 2002 Nov;52(5):645-51.

PMID:
12409508
[PubMed - indexed for MEDLINE]

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