PubMed

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.

Cardone M, Porto C, Tarallo A, Vicinanza M, Rossi B, Polishchuk E, Donaudy F, Andria G, De Matteis MA, Parenti G.

Pathogenetics. 2008 Dec 1;1(1):6.PMID: 19046416 [PubMed - in process]Free PMC ArticleFree textRelated citations

Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice.

Zhu Y, Li X, McVie-Wylie A, Jiang C, Thurberg BL, Raben N, Mattaliano RJ, Cheng SH.

Biochem J. 2005 Aug 1;389(Pt 3):619-28.PMID: 15839836 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Conjugation of mannose 6-phosphate-containing oligosaccharides to acid alpha-glucosidase improves the clearance of glycogen in pompe mice.

Zhu Y, Li X, Kyazike J, Zhou Q, Thurberg BL, Raben N, Mattaliano RJ, Cheng SH.

J Biol Chem. 2004 Nov 26;279(48):50336-41. Epub 2004 Sep 21.PMID: 15383547 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G.

Mol Ther. 2007 Mar;15(3):508-14. Epub 2007 Jan 9.PMID: 17213836 [PubMed - indexed for MEDLINE]Related citations

Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line.

Martiniuk F, Chen A, Donnabella V, Arvanitopoulos E, Slonim AE, Raben N, Plotz P, Rom WN.

Biochem Biophys Res Commun. 2000 Oct 5;276(3):917-23.PMID: 11027569 [PubMed - indexed for MEDLINE]Related citations

Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.

Pauly DF, Fraites TJ, Toma C, Bayes HS, Huie ML, Hirschhorn R, Plotz PH, Raben N, Kessler PD, Byrne BJ.

Hum Gene Ther. 2001 Mar 20;12(5):527-38.PMID: 11268285 [PubMed - indexed for MEDLINE]Related citations

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, Kanter RJ, Rice H, Chen YT, Kishnani PS.

Genet Med. 2006 May;8(5):297-301.PMID: 16702879 [PubMed - indexed for MEDLINE]Related citations

Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease.

McVie-Wylie AJ, Lee KL, Qiu H, Jin X, Do H, Gotschall R, Thurberg BL, Rogers C, Raben N, O'Callaghan M, Canfield W, Andrews L, McPherson JM, Mattaliano RJ.

Mol Genet Metab. 2008 Aug;94(4):448-55. Epub 2008 Jun 5.PMID: 18538603 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

Raben N, Fukuda T, Gilbert AL, de Jong D, Thurberg BL, Mattaliano RJ, Meikle P, Hopwood JJ, Nagashima K, Nagaraju K, Plotz PH.

Mol Ther. 2005 Jan;11(1):48-56.PMID: 15585405 [PubMed - indexed for MEDLINE]Related citations

Partial phenotypic correction and immune tolerance induction to enzyme replacement therapy after hematopoietic stem cell gene transfer of alpha-glucosidase in Pompe disease.

Douillard-Guilloux G, Richard E, Batista L, Caillaud C.

J Gene Med. 2009 Apr;11(4):279-87.PMID: 19263466 [PubMed - indexed for MEDLINE]Related citations

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.

Sun B, Bird A, Young SP, Kishnani PS, Chen YT, Koeberl DD.

Am J Hum Genet. 2007 Nov;81(5):1042-9. Epub 2007 Sep 21.PMID: 17924344 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Hyaluronidase increases the biodistribution of acid alpha-1,4 glucosidase in the muscle of Pompe disease mice: an approach to enhance the efficacy of enzyme replacement therapy.

Matalon R, Surendran S, Campbell GA, Michals-Matalon K, Tyring SK, Grady J, Cheng S, Kaye E.

Biochem Biophys Res Commun. 2006 Nov 24;350(3):783-7. Epub 2006 Oct 2.PMID: 17027913 [PubMed - indexed for MEDLINE]Related citations

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.

Fukuda T, Ahearn M, Roberts A, Mattaliano RJ, Zaal K, Ralston E, Plotz PH, Raben N.

Mol Ther. 2006 Dec;14(6):831-9. Epub 2006 Sep 27.PMID: 17008131 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE.

Neurology. 2007 Jan 9;68(2):99-109. Epub 2006 Dec 6. Erratum in: Neurology. 2008 Nov 18;71(21):1748. PMID: 17151339 [PubMed - indexed for MEDLINE]Related citations

Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches.

Takikita S, Myerowitz R, Zaal K, Raben N, Plotz PH.

Mol Genet Metab. 2009 Apr;96(4):208-17. Epub 2009 Jan 22.PMID: 19167256 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Cardiac remodeling after enzyme replacement therapy with acid alpha-glucosidase for infants with Pompe disease.

Levine JC, Kishnani PS, Chen YT, Herlong JR, Li JS.

Pediatr Cardiol. 2008 Nov;29(6):1033-42. Epub 2008 Jul 26.PMID: 18661169 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts.

Porto C, Cardone M, Fontana F, Rossi B, Tuzzi MR, Tarallo A, Barone MV, Andria G, Parenti G.

Mol Ther. 2009 Jun;17(6):964-71. Epub 2009 Mar 17.PMID: 19293774 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease.

Ashe KM, Taylor KM, Chu Q, Meyers E, Ellis A, Jingozyan V, Klinger K, Finn PF, Cooper CG, Chuang WL, Marshall J, McPherson JM, Mattaliano RJ, Cheng SH, Scheule RK, Moreland RJ.

Mol Genet Metab. 2010 Aug;100(4):309-15. Epub 2010 May 5.PMID: 20554235 [PubMed - in process]Related citations

[Enzyme replacement therapy in a patient with Pompe disease]

Fujikawa Y, Kinoshita S, Miyamoto Y, Nakayama T, Endo Y, Sasaki M.

No To Hattatsu. 2007 Sep;39(5):383-6. Japanese. PMID: 17879614 [PubMed - indexed for MEDLINE]Related citations

Fractures in children with Pompe disease: a potential long-term complication.

Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS.

Pediatr Radiol. 2007 May;37(5):437-45. Epub 2007 Mar 7.PMID: 17342521 [PubMed - indexed for MEDLINE]Related citations