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Items: 1 to 50 of 91

1.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S.

Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16.

PMID:
29506905
2.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S.

Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12.

PMID:
29435807
3.

Immunomodulatory, liver depot gene therapy for Pompe disease.

Bond JE, Kishnani PS, Koeberl DD.

Cell Immunol. 2017 Dec 29. pii: S0008-8749(17)30238-1. doi: 10.1016/j.cellimm.2017.12.011. [Epub ahead of print]

PMID:
29295737
4.

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

Puzzo F, Colella P, Biferi MG, Bali D, Paulk NK, Vidal P, Collaud F, Simon-Sola M, Charles S, Hardet R, Leborgne C, Meliani A, Cohen-Tannoudji M, Astord S, Gjata B, Sellier P, van Wittenberghe L, Vignaud A, Boisgerault F, Barkats M, Laforet P, Kay MA, Koeberl DD, Ronzitti G, Mingozzi F.

Sci Transl Med. 2017 Nov 29;9(418). pii: eaam6375. doi: 10.1126/scitranslmed.aam6375.

5.

Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia.

Farah BL, Landau DJ, Wu Y, Sinha RA, Loh A, Bay BH, Koeberl DD, Yen PM.

Mol Genet Metab. 2017 Nov;122(3):95-98. doi: 10.1016/j.ymgme.2017.08.013. Epub 2017 Sep 1.

PMID:
28888852
6.

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease.

Chien YH, Hwu WL, Lee NC, Tsai FJ, Koeberl DD, Tsai WH, Chiu PC, Chang CL.

Mol Genet Metab Rep. 2017 Apr 25;11:31-35. doi: 10.1016/j.ymgmr.2017.04.004. eCollection 2017 Jun.

7.

Hepatic mitochondrial dysfunction is a feature of Glycogen Storage Disease Type Ia (GSDIa).

Farah BL, Sinha RA, Wu Y, Singh BK, Lim A, Hirayama M, Landau DJ, Bay BH, Koeberl DD, Yen PM.

Sci Rep. 2017 Mar 20;7:44408. doi: 10.1038/srep44408.

8.

Vision of correction for classic homocystinuria.

Koeberl DD.

J Clin Invest. 2016 Jun 1;126(6):2043-4. doi: 10.1172/JCI88251. Epub 2016 May 16.

9.

Salmeterol enhances the cardiac response to gene therapy in Pompe disease.

Han SO, Li S, Koeberl DD.

Mol Genet Metab. 2016 May;118(1):35-40. doi: 10.1016/j.ymgme.2016.03.006. Epub 2016 Mar 18.

10.

Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.

Mori M, Goldstein J, Young SP, Bossen EH, Shoffner J, Koeberl DD.

Mol Genet Metab Rep. 2015 Jun 30;4:39-41. doi: 10.1016/j.ymgmr.2015.06.001. eCollection 2015 Sep.

11.

In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA.

Landau DJ, Brooks ED, Perez-Pinera P, Amarasekara H, Mefferd A, Li S, Bird A, Gersbach CA, Koeberl DD.

Mol Ther. 2016 Apr;24(4):697-706. doi: 10.1038/mt.2016.35. Epub 2016 Feb 11.

12.

Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency.

Farah BL, Landau DJ, Sinha RA, Brooks ED, Wu Y, Fung SYS, Tanaka T, Hirayama M, Bay BH, Koeberl DD, Yen PM.

J Hepatol. 2016 Feb;64(2):370-379. doi: 10.1016/j.jhep.2015.10.008. Epub 2015 Oct 20.

PMID:
26462884
13.

A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.

Han SO, Pope R, Li S, Kishnani PS, Steet R, Koeberl DD.

Mol Genet Metab. 2016 Feb;117(2):114-9. doi: 10.1016/j.ymgme.2015.09.012. Epub 2015 Oct 3.

14.

Preclinical Development of New Therapy for Glycogen Storage Diseases.

Sun B, Brooks ED, Koeberl DD.

Curr Gene Ther. 2015;15(4):338-47. Review.

15.

Corrigendum to "Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease".

Wang G, Young SP, Bali D, Hutt J, Li S, Benson J, Koeberl DD.

Mol Ther Methods Clin Dev. 2015 Feb 18;2:15002. doi: 10.1038/mtm.2015.2. eCollection 2015.

16.

The heart is just a muscle.

McGarrah RW, Ahmad T, Koeberl DD, Patel CB.

Circulation. 2015 Mar 10;131(10):914-22. doi: 10.1161/CIRCULATIONAHA.114.011647. No abstract available.

17.

A natural choice for hemophilia B.

Koeberl DD.

Blood. 2015 Mar 5;125(10):1509-10. doi: 10.1182/blood-2015-01-622506.

18.

Large animal models and new therapies for glycogen storage disease.

Brooks ED, Koeberl DD.

J Inherit Metab Dis. 2015 May;38(3):505-9. doi: 10.1007/s10545-014-9766-8. Epub 2014 Sep 16. Review.

19.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.

Prasun P, Koeberl DD.

J Neurol. 2014 Sep;261(9):1818-9. doi: 10.1007/s00415-014-7428-2. Epub 2014 Jul 15. No abstract available.

PMID:
25022940
20.

Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease.

Farah BL, Madden L, Li S, Nance S, Bird A, Bursac N, Yen PM, Young SP, Koeberl DD.

FASEB J. 2014 May;28(5):2272-80. doi: 10.1096/fj.13-244202. Epub 2014 Jan 21.

21.

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.

Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D, Kishnani PS.

FASEB J. 2014 May;28(5):2171-6. doi: 10.1096/fj.13-241893. Epub 2014 Jan 17.

PMID:
24443373
22.

Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease.

Wang G, Young SP, Bali D, Hutt J, Li S, Benson J, Koeberl DD.

Mol Ther Methods Clin Dev. 2014 Jun 11;1:14018. doi: 10.1038/mtm.2014.18. eCollection 2014. Erratum in: Mol Ther Methods Clin Dev. 2015;2:15002.

23.

The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia.

Lee YM, Pan CJ, Koeberl DD, Mansfield BC, Chou JY.

Mol Genet Metab. 2013 Nov;110(3):275-80. doi: 10.1016/j.ymgme.2013.06.014. Epub 2013 Jun 25.

24.

Pathogenesis of growth failure and partial reversal with gene therapy in murine and canine Glycogen Storage Disease type Ia.

Brooks ED, Little D, Arumugam R, Sun B, Curtis S, Demaster A, Maranzano M, Jackson MW, Kishnani P, Freemark MS, Koeberl DD.

Mol Genet Metab. 2013 Jun;109(2):161-70. doi: 10.1016/j.ymgme.2013.03.018. Epub 2013 Apr 6.

25.

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP.

Mol Genet Metab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003. Epub 2013 Mar 16.

PMID:
23583224
26.

Deficiency in MyD88 Signaling Results in Decreased Antibody Responses to an Adeno-Associated Virus Vector in Murine Pompe Disease.

Zhang P, Luo X, Bird A, Li S, Koeberl DD.

Biores Open Access. 2012 Jun;1(3):109-14. doi: 10.1089/biores.2012.0217.

27.

Aerobic training as an adjunctive therapy to enzyme replacement in Pompe disease.

Nilsson MI, Samjoo IA, Hettinga BP, Koeberl DD, Zhang H, Hawke TJ, Nissar AA, Ali T, Brandt L, Ansari MU, Hazari H, Patel N, Amon J, Tarnopolsky MA.

Mol Genet Metab. 2012 Nov;107(3):469-79. doi: 10.1016/j.ymgme.2012.09.010. Epub 2012 Sep 15.

PMID:
23041258
28.

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease.

Li S, Sun B, Nilsson MI, Bird A, Tarnopolsky MA, Thurberg BL, Bali D, Koeberl DD.

FASEB J. 2013 Jan;27(1):34-44. doi: 10.1096/fj.12-207472. Epub 2012 Sep 19.

29.

Characterization of a canine model of glycogen storage disease type IIIa.

Yi H, Thurberg BL, Curtis S, Austin S, Fyfe J, Koeberl DD, Kishnani PS, Sun B.

Dis Model Mech. 2012 Nov;5(6):804-11. doi: 10.1242/dmm.009712. Epub 2012 Jun 26.

30.

In search of proof-of-concept: gene therapy for glycogen storage disease type Ia.

Koeberl DD.

J Inherit Metab Dis. 2012 Jul;35(4):671-8. doi: 10.1007/s10545-012-9454-5. Epub 2012 Feb 7.

PMID:
22310927
31.

Immunodominant liver-specific expression suppresses transgene-directed immune responses in murine pompe disease.

Zhang P, Sun B, Osada T, Rodriguiz R, Yang XY, Luo X, Kemper AR, Clay TM, Koeberl DD.

Hum Gene Ther. 2012 May;23(5):460-72. doi: 10.1089/hum.2011.063. Epub 2012 Mar 29.

32.

Long-term efficacy following readministration of an adeno-associated virus vector in dogs with glycogen storage disease type Ia.

Demaster A, Luo X, Curtis S, Williams KD, Landau DJ, Drake EJ, Kozink DM, Bird A, Crane B, Sun F, Pinto CR, Brown TT, Kemper AR, Koeberl DD.

Hum Gene Ther. 2012 Apr;23(4):407-18. doi: 10.1089/hum.2011.106. Epub 2012 Mar 8.

33.

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.

Koeberl DD, Li S, Dai J, Thurberg BL, Bali D, Kishnani PS.

Mol Genet Metab. 2012 Feb;105(2):221-7. doi: 10.1016/j.ymgme.2011.11.005. Epub 2011 Nov 11.

34.

Hepatorenal correction in murine glycogen storage disease type I with a double-stranded adeno-associated virus vector.

Luo X, Hall G, Li S, Bird A, Lavin PJ, Winn MP, Kemper AR, Brown TT, Koeberl DD.

Mol Ther. 2011 Nov;19(11):1961-70. doi: 10.1038/mt.2011.126. Epub 2011 Jul 5.

35.

Rescue administration of a helper-dependent adenovirus vector with long-term efficacy in dogs with glycogen storage disease type Ia.

Crane B, Luo X, Demaster A, Williams KD, Kozink DM, Zhang P, Brown TT, Pinto CR, Oka K, Sun F, Jackson MW, Chan L, Koeberl DD.

Gene Ther. 2012 Apr;19(4):443-52. doi: 10.1038/gt.2011.86. Epub 2011 Jun 9.

PMID:
21654821
36.

Metabolic myopathies: clinical features and diagnostic approach.

Smith EC, El-Gharbawy A, Koeberl DD.

Rheum Dis Clin North Am. 2011 May;37(2):201-17, vi. doi: 10.1016/j.rdc.2011.01.004. Review.

PMID:
21444020
37.

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

Koeberl DD, Luo X, Sun B, McVie-Wylie A, Dai J, Li S, Banugaria SG, Chen YT, Bali DS.

Mol Genet Metab. 2011 Jun;103(2):107-12. doi: 10.1016/j.ymgme.2011.02.006. Epub 2011 Feb 13.

38.

Antibody formation and mannose-6-phosphate receptor expression impact the efficacy of muscle-specific transgene expression in murine Pompe disease.

Sun B, Li S, Bird A, Yi H, Kemper A, Thurberg BL, Koeberl DD.

J Gene Med. 2010 Nov;12(11):881-91. doi: 10.1002/jgm.1511. Epub 2010 Oct 22.

39.

Hydrostatic isolated limb perfusion with adeno-associated virus vectors enhances correction of skeletal muscle in Pompe disease.

Sun B, Li S, Bird A, Koeberl DD.

Gene Ther. 2010 Dec;17(12):1500-5. doi: 10.1038/gt.2010.109. Epub 2010 Aug 5.

40.

The role of hepatocyte hemojuvelin in the regulation of bone morphogenic protein-6 and hepcidin expression in vivo.

Zhang AS, Gao J, Koeberl DD, Enns CA.

J Biol Chem. 2010 May 28;285(22):16416-23. doi: 10.1074/jbc.M110.109488. Epub 2010 Apr 2.

41.

Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.

Gao J, Chen J, De Domenico I, Koeller DM, Harding CO, Fleming RE, Koeberl DD, Enns CA.

Blood. 2010 Apr 22;115(16):3374-81. doi: 10.1182/blood-2009-09-245209. Epub 2010 Feb 22.

42.

Immunomodulatory gene therapy in lysosomal storage disorders.

Koeberl DD, Kishnani PS.

Curr Gene Ther. 2009 Dec;9(6):503-10. Review.

43.

Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease.

Sun B, Kulis MD, Young SP, Hobeika AC, Li S, Bird A, Zhang H, Li Y, Clay TM, Burks W, Kishnani PS, Koeberl DD.

Mol Ther. 2010 Feb;18(2):353-60. doi: 10.1038/mt.2009.195. Epub 2009 Aug 18.

44.

Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression.

Sun B, Zhang H, Bird A, Li S, Young SP, Koeberl DD.

J Gene Med. 2009 Oct;11(10):913-20. doi: 10.1002/jgm.1372.

45.

Liver transplantation for glycogen storage disease type Ia.

Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM, Smith AD, Kishnani PS.

J Hepatol. 2009 Sep;51(3):483-90. doi: 10.1016/j.jhep.2009.05.026. Epub 2009 Jun 17.

PMID:
19596478
46.

Emerging therapies for glycogen storage disease type I.

Koeberl DD, Kishnani PS, Bali D, Chen YT.

Trends Endocrinol Metab. 2009 Jul;20(5):252-8. doi: 10.1016/j.tem.2009.02.003. Epub 2009 Jun 21. Review.

PMID:
19541498
47.

Activation of glycolysis and apoptosis in glycogen storage disease type Ia.

Sun B, Li S, Yang L, Damodaran T, Desai D, Diehl AM, Alzate O, Koeberl DD.

Mol Genet Metab. 2009 Aug;97(4):267-71. doi: 10.1016/j.ymgme.2009.04.003. Epub 2009 Apr 10.

PMID:
19419892
48.

Gene therapy for inhereted metabolic disorders in companion animals.

Koeberl DD, Pinto C, Brown T, Chen YT.

ILAR J. 2009;50(2):122-7. Review.

PMID:
19293457
49.

Age-related efficacy with an AAV vector in Fabry disease mice.

Koeberl DD.

Mol Genet Metab. 2009 Mar;96(3):83-4. doi: 10.1016/j.ymgme.2008.10.014. Epub 2008 Dec 10. No abstract available.

PMID:
19083254
50.

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Case LE, Koeberl DD, Young SP, Bali D, DeArmey SM, Mackey J, Kishnani PS.

Mol Genet Metab. 2008 Dec;95(4):233-5. doi: 10.1016/j.ymgme.2008.09.001. Epub 2008 Oct 18.

PMID:
18930676

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