Literature DB >> 8921383

The genes for the alpha and beta subunits of the mitochondrial trifunctional protein are both located in the same region of human chromosome 2p23.

B Z Yang1, H H Heng, J H Ding, C R Roe.   

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Year:  1996        PMID: 8921383     DOI: 10.1006/geno.1996.0533

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


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  7 in total

1.  Mitochondrial Trifunctional Protein Deficiency: Severe Cardiomyopathy and Cardiac Transplantation.

Authors:  C Bursle; R Weintraub; C Ward; R Justo; J Cardinal; D Coman
Journal:  JIMD Rep       Date:  2017-11-10

Review 2.  Disorders of mitochondrial fatty acyl-CoA beta-oxidation.

Authors:  R J Wanders; P Vreken; M E den Boer; F A Wijburg; A H van Gennip; L IJlst
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

3.  Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography.

Authors:  Annemarijne R J Veenvliet; Mark R Garrelfs; Floris E A Udink Ten Cate; Sacha Ferdinandusse; Simone Denis; Sabine A Fuchs; Marit Schwantje; Rosa Geurtzen; Annemiek M J van Wegberg; Marleen C D G Huigen; Leo A J Kluijtmans; Ronald J A Wanders; Terry G J Derks; Lonneke de Boer; Riekelt H Houtkooper; Maaike C de Vries; Clara D M van Karnebeek
Journal:  Mol Genet Metab Rep       Date:  2022-05-04

4.  Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.

Authors:  Ryosuke Bo; Kenji Yamada; Hironori Kobayashi; Purevsuren Jamiyan; Yuki Hasegawa; Takeshi Taketani; Seiji Fukuda; Ikue Hata; Yo Niida; Yosuke Shigematsu; Kazumoto Iijima; Seiji Yamaguchi
Journal:  J Hum Genet       Date:  2017-05-18       Impact factor: 3.172

5.  Fetal left ventricular noncompaction cardiomyopathy and fatal outcome due to complete deficiency of mitochondrial trifunctional protein.

Authors:  Tiina Ojala; Irmeli Nupponen; Carola Saloranta; Taisto Sarkola; Priya Sekar; Anniina Breilin; Tiina Tyni
Journal:  Eur J Pediatr       Date:  2015-06-13       Impact factor: 3.183

6.  Women have higher protein content of beta-oxidation enzymes in skeletal muscle than men.

Authors:  Amy C Maher; Mahmood Akhtar; Jerry Vockley; Mark A Tarnopolsky
Journal:  PLoS One       Date:  2010-08-06       Impact factor: 3.240

7.  Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.

Authors:  Xiaona Fu; Feixia Zheng; Yao Zhang; Xinhua Bao; Shuang Wang; Yanling Yang; Hui Xiong
Journal:  Mol Genet Metab Rep       Date:  2015-11-06
  7 in total

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