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Items: 6

1.

Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.

Witkowski A, Thweatt J, Smith S.

J Biol Chem. 2011 Sep 30;286(39):33729-36. doi: 10.1074/jbc.M111.291591.

2.

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group., Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP.

Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908.

3.

Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome.

Watkins PA, Maiguel D, Jia Z, Pevsner J.

J Lipid Res. 2007 Dec;48(12):2736-50.

4.

Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies.

Gregg AR, Warman AW, Thorburn DR, O'Brien WE.

J Inherit Metab Dis. 1998 Jun;21(4):382-90.

PMID:
9700595
5.

Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy.

Podell M, Shelton GD, Nyhan WL, Wagner SO, Genders A, Oglesbee M, Fenner WR.

Metab Brain Dis. 1996 Sep;11(3):239-47.

PMID:
8869944
6.

Malonic aciduria.

Ozand PT, Nyhan WL, al Aqeel A, Christodoulou J.

Brain Dev. 1994 Nov;16 Suppl:7-11.

PMID:
7537025
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