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Results: 1 to 20 of 64

PubMed for Gene (Select 3032)

1.

A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.

Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO.

BMC Med Genet. 2013 Dec 5;14:125. doi: 10.1186/1471-2350-14-125.

2.

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.

Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Li H, Mushimoto Y, Fukuda S, Yamaguchi S.

Mol Genet Metab. 2009 Dec;98(4):372-7. doi: 10.1016/j.ymgme.2009.07.011. Epub 2009 Jul 23.

PMID:
19699128
3.

Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.

Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T, Kondo N, Hashimoto T.

Hum Mol Genet. 1997 Aug;6(8):1215-24.

4.

Estrogen receptor beta interacts and colocalizes with HADHB in mitochondria.

Zhou Z, Zhou J, Du Y.

Biochem Biophys Res Commun. 2012 Oct 19;427(2):305-8. doi: 10.1016/j.bbrc.2012.09.047. Epub 2012 Sep 18.

5.

Estrogen receptor alpha interacts with mitochondrial protein HADHB and affects beta-oxidation activity.

Zhou Z, Zhou J, Du Y.

Mol Cell Proteomics. 2012 Jul;11(7):M111.011056. doi: 10.1074/mcp.M111.011056. Epub 2012 Feb 27.

6.

A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence.

Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M.

Mol Genet Metab. 2011 Dec;104(4):556-9. doi: 10.1016/j.ymgme.2011.09.025. Epub 2011 Sep 28.

PMID:
22000755
7.

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.

Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M.

Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19.

PMID:
21549624
8.

Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.

Fould B, Garlatti V, Neumann E, Fenel D, Gaboriaud C, Arlaud GJ.

Biochemistry. 2010 Oct 5;49(39):8608-17. doi: 10.1021/bi100742w. Epub 2010 Sep 8.

PMID:
20825197
9.

[Screening for G1528C mutation in mitochondrial trifunctional protein gene in pregnant women with severe preeclampsia and new born infant].

Wang R, Yang Z, Zhu JM, Wang JL, Yang HX, Wang Q, Zhai GR, Li Z, Yu M.

Zhonghua Fu Chan Ke Za Zhi. 2006 Oct;41(10):672-5. Chinese.

PMID:
17199921
11.

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW.

Hum Mutat. 2003 Jun;21(6):598-607.

PMID:
12754706
12.

Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region.

Orii KE, Orii KO, Souri M, Orii T, Kondo N, Hashimoto T, Aoyama T.

J Biol Chem. 1999 Mar 19;274(12):8077-84.

13.

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

Ibdah JA, Tein I, Dionisi-Vici C, Bennett MJ, IJlst L, Gibson B, Wanders RJ, Strauss AW.

J Clin Invest. 1998 Sep 15;102(6):1193-9.

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17.

Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

Kamijo T, Wanders RJ, Saudubray JM, Aoyama T, Komiyama A, Hashimoto T.

J Clin Invest. 1994 Apr;93(4):1740-7.

18.

Structural analysis of cDNAs for subunits of human mitochondrial fatty acid beta-oxidation trifunctional protein.

Kamijo T, Aoyama T, Komiyama A, Hashimoto T.

Biochem Biophys Res Commun. 1994 Mar 15;199(2):818-25.

PMID:
8135828
19.

The mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase.

Middleton B.

Biochem Soc Trans. 1994 May;22(2):427-31. Review. No abstract available.

PMID:
7958339
20.

Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria.

Carpenter K, Pollitt RJ, Middleton B.

Biochem Biophys Res Commun. 1992 Mar 16;183(2):443-8.

PMID:
1550553
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