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Items: 1 to 20 of 124

1.

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.

2.

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.

3.

Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.

Zsengellér ZK, Aljinovic N, Teot LA, Korson M, Rodig N, Sloan JL, Venditti CP, Berry GT, Rosen S.

Pediatr Nephrol. 2014 Nov;29(11):2139-46. doi: 10.1007/s00467-014-2847-y. Epub 2014 May 28.

PMID:
24865477
4.

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.

5.

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.

Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021. Epub 2013 Sep 17.

PMID:
24095221
6.

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.

7.
8.

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.

9.

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.

10.

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.

11.

Seven novel mutations in mut methylmalonic aciduria.

Adjalla CE, Hosack AR, Gilfix BM, Lamothe E, Sun S, Chan A, Evans S, Matiaszuk NV, Rosenblatt DS.

Hum Mutat. 1998;11(4):270-4.

PMID:
9554742
12.

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.

13.

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.

14.
15.

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER.

Pediatr Res. 2007 Aug;62(2):225-30.

PMID:
17597648
16.

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.

17.

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
18.

Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.

Richard E, Monteoliva L, Juarez S, Pérez B, Desviat LR, Ugarte M, Albar JP.

J Proteome Res. 2006 Jul;5(7):1602-10.

PMID:
16823967
19.

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.

Keyfi F, Sankian M, Moghaddassian M, Rolfs A, Varasteh AR.

Gene. 2016 Jan 15;576(1 Pt 2):208-13. doi: 10.1016/j.gene.2015.10.002. Epub 2015 Oct 9.

PMID:
26449400
20.

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

Martínez MA, Rincón A, Desviat LR, Merinero B, Ugarte M, Pérez B.

Mol Genet Metab. 2005 Apr;84(4):317-25. Epub 2005 Jan 22.

PMID:
15781192
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