| 1 | HADHB, MTPD
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| Peripheral Neuropathy, Episodic Rhabdomyolysis, and Hypoparathyroidism in a Patient with Mitochondrial Trifunctional Protein Deficiency.
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| van Vliet P, Berden AE, van Schie MKM, Bakker JA, Heringhaus C, de Coo IFM, Langeveld M, Schroijen MA, Arbous MS.
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| JIMD Rep IMD Rep. 2017 Jul 7. doi: 10.1007/8904_2017_37. [Epub ahead of print]
2017
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| 2 | HADHA, HADHB, MTPD
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| A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.
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| Bo R, Hasegawa Y, Yamada K, Kobayashi H, Taketani T, Fukuda S, Yamaguchi S.
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| Mol Genet Metab Rep 6:1-4. doi: 10.1016/j.ymgmr.2015.11.005. eCollection 2016 Mar.
2015
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| 3 | HADHA, HADHB, MTPD
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| Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.
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| Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N.
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| Am J Med Genet A 164A(5):1180-7. doi: 10.1002/ajmg.a.36434. Epub 2014 Mar 24. 2014
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| 4 | HADHB, MTPD
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| A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth disease.
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| Hong YB, Lee JH, Park JM, Choi YR, Hyun YS, Yoon BR, Yoo JH, Koo H, Jung SC, Chung KW, Choi BO.
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| BMC Med Genet 14:125. doi: 10.1186/1471-2350-14-125.
2013
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| 5 | ESR1, ESR2, HADHB
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| Estrogen receptor beta interacts and colocalizes with HADHB in mitochondria.
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| Zhou Z, Zhou J, Du Y.
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| Biochem Biophys Res Commun 427(2):305-8. doi: 10.1016/j.bbrc.2012.09.047. Epub 2012 Sep 18.
2012
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| 6 | HADHB, MTPD
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| 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.
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| Yagi M, Lee T, Awano H, Tsuji M, Tajima G, Kobayashi H, Hasegawa Y, Yamaguchi S, Takeshima Y, Matsuo M.
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| Mol Genet Metab 104(4):556-9. doi: 10.1016/j.ymgme.2011.09.025. Epub 2011 Sep 28.
2011
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| 7 | HADHA, HADHB
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| Structural and functional characterization of the recombinant human mitochondrial trifunctional protein.
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| Fould B, Garlatti V, Neumann E, Fenel D, Gaboriaud C, Arlaud GJ.
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| Biochemistry 49(39):8608-17. Epub 2010 Sep 8.
2010
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| 8 | HADHB, MTPD
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| Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.
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| Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Li H, Mushimoto Y, Fukuda S, Yamaguchi S.
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| Mol Genet Metab 98(4):372-7. Epub 2009 Jul 23.
2009
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| 9 | HADHA, HADHB, LCHAD, MTPD
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| Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency.
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| Spiekerkoetter U, Mueller M, Cloppenburg E, Motz R, Mayatepek E, Bueltmann B, Korenke C.
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| Mol Genet Metab 94(4):428-30. Epub 2008 May 15. 2008
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| 10 | HADHA, HADHB, LCHAD
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| Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
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| Choi JH, Yoon HR, Kim GH, Park SJ, Shin YL, Yoo HW.
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| Int J Mol Med 19(1):81-7. 2007
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| 11 | REN, ELAVL1, PCBP1, HADHB
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| HADHB, HuR, and CP1 bind to the distal 3'-untranslated region of human renin mRNA and differentially modulate renin expression.
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| Adams DJ, Beveridge DJ, van der Weyden L, Mangs H, Leedman PJ, Morris BJ.
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| J Biol Chem 278(45):44894-903. Epub 2003 Aug 21. 2003
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| 12 | HADHA, HADHB, LCHAD
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| A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women.
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| Ibdah JA, et al.
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| N Engl J Med 340(22):1723-31. 1999
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| 13 | HADHA, HADHB
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| Genes for the human mitochondrial trifunctional protein alpha- and beta-subunits are divergently transcribed from a common promoter region.
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| Orii KE, et al.
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| J Biol Chem 274(12):8077-84. 1999
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| 14 | HADHB, LCHAD
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| Genomic and mutational analysis of the mitochondrial trifunctional protein beta-subunit (HADHB) gene in patients with trifunctional protein deficiency.
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| Orii KE, Aoyama T, Wakui K, Fukushima Y, Miyajima H, Yamaguchi S, Orii T, Kondo N, Hashimoto T.
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| Hum Mol Genet 6(8):1215-24. 1997
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| 15 | LCHAD, HADHA, HADHB
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| Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.
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| IJlst L, Oostheim W, Ruiter JP, Wanders RJ.
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| J Inherit Metab Dis 20(3):420-2. 1997
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| 16 | HADHA, HADHB
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| Fluorescence in situ hybridization mapping of the alpha and beta subunits (HADHA and HADHB) of human mitochondrial fatty acid beta-oxidation multienzyme complex to 2p23 and their evolution.
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| Aoyama T, Wakui K, Orii KE, Hashimoto T, Fukushima Y.
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| Cytogenet Cell Genet 79 : 221-224. 1997
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| 17 | HADHA, HADHB, MTPD
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| Molecular characterization of mitochondrial trifunctional protein deficiency : formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits.
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| Ushikubo S, et al.
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| Am J Hum Genet 58 : 979-988. 1996
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| 18 | HADHA, HADHB
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| The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23.
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| Yang BZ, et al.
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| Genomics 37 : 141-143. 1996
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| 19 | HADHA, HADHB, LCHAD, MTPD
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| Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
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| Hagenfeldt L, et al.
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| J Inherit Metab Dis 18 : 245-248. 1995
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| 20 | HADHA, HADHB, LCHAD, MTPD
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| Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.
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| Brackett JC, et al.
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| J Clin Invest 95 : 2076-2082. 1995
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