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Items: 1 to 20 of 45

1.
2.

Methylmalonic acidaemia leads to increased production of reactive oxygen species and induction of apoptosis through the mitochondrial/caspase pathway.

Richard E, Alvarez-Barrientos A, Pérez B, Desviat LR, Ugarte M.

J Pathol. 2007 Dec;213(4):453-61.

PMID:
17948227
3.

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.

4.

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
5.

Disorders of nuclear-mitochondrial intergenomic communication.

Spinazzola A, Zeviani M.

Biosci Rep. 2007 Jun;27(1-3):39-51. Review.

PMID:
17510790
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.

Detection of mutations in mtDNA.

Naini A, Shanske S.

Methods Cell Biol. 2007;80:437-63. Review. No abstract available.

PMID:
17445708
8.
9.

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.

Kaplan P, Ficicioglu C, Mazur AT, Palmieri MJ, Berry GT.

Mol Genet Metab. 2006 Aug;88(4):322-6. Epub 2006 Jun 5.

PMID:
16750411
10.

Differential inhibitory effects of methylmalonic acid on respiratory chain complex activities in rat tissues.

Pettenuzzo LF, Ferreira Gda C, Schmidt AL, Dutra-Filho CS, Wyse AT, Wajner M.

Int J Dev Neurosci. 2006 Feb;24(1):45-52.

PMID:
16324816
11.

Management of methylmalonic acidaemia by combined liver-kidney transplantation.

Nagarajan S, Enns GM, Millan MT, Winter S, Sarwal MM.

J Inherit Metab Dis. 2005;28(4):517-24.

PMID:
15902554
12.

Methylmalonic and propionic acidaemias: management and outcome.

de Baulny HO, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM.

J Inherit Metab Dis. 2005;28(3):415-23. Review.

PMID:
15868474
13.

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality.

Peters H, Nefedov M, Sarsero J, Pitt J, Fowler KJ, Gazeas S, Kahler SG, Ioannou PA.

J Biol Chem. 2003 Dec 26;278(52):52909-13. Epub 2003 Oct 10.

14.

Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain.

Kölker S, Schwab M, Hörster F, Sauer S, Hinz A, Wolf NI, Mayatepek E, Hoffmann GF, Smeitink JA, Okun JG.

J Biol Chem. 2003 Nov 28;278(48):47388-93. Epub 2003 Sep 12.

15.

Megamitochondria formation - physiology and pathology.

Wakabayashi T.

J Cell Mol Med. 2002 Oct-Dec;6(4):497-538. Review.

16.

Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity.

Okun JG, Hörster F, Farkas LM, Feyh P, Hinz A, Sauer S, Hoffmann GF, Unsicker K, Mayatepek E, Kölker S.

J Biol Chem. 2002 Apr 26;277(17):14674-80. Epub 2002 Feb 14.

17.

The management of organic acidaemias: the role of transplantation.

Leonard JV, Walter JH, McKiernan PJ.

J Inherit Metab Dis. 2001 Apr;24(2):309-11.

PMID:
11405351
18.

Modifier genes in mice and humans.

Nadeau JH.

Nat Rev Genet. 2001 Mar;2(3):165-74. Review.

PMID:
11256068
19.

Increased mitochondrial oxidative stress in the Sod2 (+/-) mouse results in the age-related decline of mitochondrial function culminating in increased apoptosis.

Kokoszka JE, Coskun P, Esposito LA, Wallace DC.

Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2278-83. Epub 2001 Feb 13.

20.

Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy.

Li H, Wang J, Wilhelmsson H, Hansson A, Thoren P, Duffy J, Rustin P, Larsson NG.

Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3467-72.

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