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Items: 1 to 20 of 110

1.

Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy.

Chandler RJ, Venditti CP.

Mol Ther. 2010 Jan;18(1):11-6. doi: 10.1038/mt.2009.247. Epub 2009 Oct 27.

2.

Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery.

Sénac JS, Chandler RJ, Sysol JR, Li L, Venditti CP.

Gene Ther. 2012 Apr;19(4):385-91. doi: 10.1038/gt.2011.108. Epub 2011 Jul 21.

3.

Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction.

Carrillo-Carrasco N, Chandler RJ, Chandrasekaran S, Venditti CP.

Hum Gene Ther. 2010 Sep;21(9):1147-54. doi: 10.1089/hum.2010.008.

4.

Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA).

Chandler RJ, Venditti CP.

Mol Genet Metab. 2012 Nov;107(3):617-9. doi: 10.1016/j.ymgme.2012.09.019. Epub 2012 Sep 25.

5.

Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia.

Harrington EA, Sloan JL, Manoli I, Chandler RJ, Schneider M, McGuire PJ, Calcedo R, Wilson JM, Venditti CP.

Hum Gene Ther. 2016 May;27(5):345-53. doi: 10.1089/hum.2015.092. Epub 2016 Mar 22.

6.
7.

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes.

Chandler RJ, Tsai MS, Dorko K, Sloan J, Korson M, Freeman R, Strom S, Venditti CP.

BMC Med Genet. 2007 Apr 30;8:24.

8.

Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector.

Wong ES, McIntyre C, Peters HL, Ranieri E, Anson DS, Fletcher JM.

Hum Gene Ther. 2014 Jun;25(6):529-38. doi: 10.1089/hum.2013.111. Epub 2014 Apr 2.

9.

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle.

Chandler RJ, Sloan J, Fu H, Tsai M, Stabler S, Allen R, Kaestner KH, Kazazian HH, Venditti CP.

BMC Med Genet. 2007 Oct 15;8:64.

10.

Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus.

Buck NE, Dashnow H, Pitt JJ, Wood LR, Peters HL.

PLoS One. 2012;7(9):e44974. Epub 2012 Sep 14.

11.

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia.

Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas PM, Cusmano-Ozog K, Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M, Elkahloun AG, Rosen S, Enns GM, Berry GT, Hoffmann V, DiMauro S, Schnermann J, Venditti CP.

Proc Natl Acad Sci U S A. 2013 Aug 13;110(33):13552-7. doi: 10.1073/pnas.1302764110. Epub 2013 Jul 29.

12.
13.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR.

J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12.

14.

Mitochondrial dysfunction in mut methylmalonic acidemia.

Chandler RJ, Zerfas PM, Shanske S, Sloan J, Hoffmann V, DiMauro S, Venditti CP.

FASEB J. 2009 Apr;23(4):1252-61. doi: 10.1096/fj.08-121848. Epub 2008 Dec 16.

17.

Mouse models for methylmalonic aciduria.

Peters HL, Pitt JJ, Wood LR, Hamilton NJ, Sarsero JP, Buck NE.

PLoS One. 2012;7(7):e40609. doi: 10.1371/journal.pone.0040609. Epub 2012 Jul 9.

18.

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

Sawangareetrakul P, Ketudat Cairns JR, Vatanavicharn N, Liammongkolkul S, Wasant P, Svasti J, Champattanachai V.

Biochem Genet. 2015 Dec;53(11-12):310-8. doi: 10.1007/s10528-015-9694-9. Epub 2015 Sep 14.

PMID:
26370686
19.
20.

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M.

J Inherit Metab Dis. 2008 Feb;31(1):55-66. Epub 2007 Oct 22.

PMID:
17957493

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