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Items: 1 to 20 of 105


Lipid composition of whole brain and cerebellum in Hurler syndrome (MPS IH) mice.

Heinecke KA, Peacock BN, Blazar BR, Tolar J, Seyfried TN.

Neurochem Res. 2011 Sep;36(9):1669-76. doi: 10.1007/s11064-011-0400-y. Epub 2011 Jan 21.


Alterations of membrane lipids and in gene expression of ganglioside metabolism in different brain structures in a mouse model of mucopolysaccharidosis type I (MPS I).

Kreutz F, dos Santos Petry F, Camassola M, Schein V, Guma FC, Nardi NB, Trindade VM.

Gene. 2013 Sep 15;527(1):109-14. doi: 10.1016/j.gene.2013.06.002. Epub 2013 Jun 15.


Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.

Wang D, Shukla C, Liu X, Schoeb TR, Clarke LA, Bedwell DM, Keeling KM.

Mol Genet Metab. 2010 Jan;99(1):62-71. doi: 10.1016/j.ymgme.2009.08.002. Erratum in: Mol Genet Metab. 2010 Apr;99(4):439.


Long-term nonsense suppression therapy moderates MPS I-H disease progression.

Gunn G, Dai Y, Du M, Belakhov V, Kandasamy J, Schoeb TR, Baasov T, Bedwell DM, Keeling KM.

Mol Genet Metab. 2014 Mar;111(3):374-381. doi: 10.1016/j.ymgme.2013.12.007. Epub 2013 Dec 17.


Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, Ruijter GJ.

Mol Genet Metab. 2013 Aug;109(4):377-81. doi: 10.1016/j.ymgme.2013.05.016. Epub 2013 Jun 4.


Increased longevity and metabolic correction following syngeneic BMT in a murine model of mucopolysaccharidosis type I.

Wolf DA, Lenander AW, Nan Z, Braunlin EA, Podetz-Pedersen KM, Whitley CB, Gupta P, Low WC, McIvor RS.

Bone Marrow Transplant. 2012 Sep;47(9):1235-40. doi: 10.1038/bmt.2011.239. Epub 2011 Dec 19.


Targeting of the CNS in MPS-IH using a nonviral transferrin-alpha-L-iduronidase fusion gene product.

Osborn MJ, McElmurry RT, Peacock B, Tolar J, Blazar BR.

Mol Ther. 2008 Aug;16(8):1459-66. doi: 10.1038/mt.2008.119. Epub 2008 Jun 3.


The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.

Wang D, Belakhov V, Kandasamy J, Baasov T, Li SC, Li YT, Bedwell DM, Keeling KM.

Mol Genet Metab. 2012 Jan;105(1):116-25. doi: 10.1016/j.ymgme.2011.10.005. Epub 2011 Oct 19.


High-dose enzyme replacement therapy in murine Hurler syndrome.

Ou L, Herzog T, Koniar BL, Gunther R, Whitley CB.

Mol Genet Metab. 2014 Feb;111(2):116-22. doi: 10.1016/j.ymgme.2013.09.008. Epub 2013 Sep 19.


Comparison of Endovascular and Intraventricular Gene Therapy With Adeno-Associated Virus-α-L-Iduronidase for Hurler Disease.

Janson CG, Romanova LG, Leone P, Nan Z, Belur L, McIvor RS, Low WC.

Neurosurgery. 2014 Jan;74(1):99-111. doi: 10.1227/NEU.0000000000000157.


Progression of multiple behavioral deficits with various ages of onset in a murine model of Hurler syndrome.

Pan D, Sciascia A 2nd, Vorhees CV, Williams MT.

Brain Res. 2008 Jan 10;1188:241-53. Epub 2007 Oct 23.


Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).

Tieu PT, Bach G, Matynia A, Hwang M, Neufeld EF.

Hum Mutat. 1995;6(1):55-9.


Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.

Kim C, Kwak MJ, Cho SY, Ko AR, Rheey J, Kwon JY, Chung Y, Jin DK.

Orphanet J Rare Dis. 2015 Sep 25;10:121. doi: 10.1186/s13023-015-0337-3.


A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.

Prommajan K, Ausavarat S, Srichomthong C, Puangsricharern V, Suphapeetiporn K, Shotelersuk V.

Mol Vis. 2011 Feb 11;17:456-60.


Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector.

Kobayashi H, Carbonaro D, Pepper K, Petersen D, Ge S, Jackson H, Shimada H, Moats R, Kohn DB.

Mol Ther. 2005 May;11(5):776-89.


Prevention of neuropathology in the mouse model of Hurler syndrome.

Desmaris N, Verot L, Puech JP, Caillaud C, Vanier MT, Heard JM.

Ann Neurol. 2004 Jul;56(1):68-76.


Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice.

Baldo G, Mayer FQ, Martinelli BZ, de Carvalho TG, Meyer FS, de Oliveira PG, Meurer L, Tavares A, Matte U, Giugliani R.

Mol Genet Metab. 2013 May;109(1):33-40. doi: 10.1016/j.ymgme.2013.03.005. Epub 2013 Mar 16.


Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome.

Wang D, Zhang W, Kalfa TA, Grabowski G, Davies S, Malik P, Pan D.

Proc Natl Acad Sci U S A. 2009 Nov 24;106(47):19958-63. doi: 10.1073/pnas.0908528106. Epub 2009 Nov 10.


Murine MPS I: insights into the pathogenesis of Hurler syndrome.

Russell C, Hendson G, Jevon G, Matlock T, Yu J, Aklujkar M, Ng KY, Clarke LA.

Clin Genet. 1998 May;53(5):349-61.


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