Literature DB >> 8422439

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.

C Bertrand1, C Largillière, M T Zabot, M Mathieu, C Vianey-Saban.   

Abstract

A patient highly suspected of long chain fatty acid oxidation defect was investigated for membrane-bound palmitoyl-CoA dehydrogenation in a membrane extract from skin fibroblasts, using 1% sodium cholate as detergent. The profoundly decreased activity observed is consistent with a deficiency of the newly identified mitochondrial 'very long chain acyl-CoA dehydrogenase'.

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Year:  1993        PMID： 8422439     DOI： 10.1016/0925-4439(93)90058-9

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN： 0006-3002


  26 in total

1.  Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation.

Authors:  D M Kurtz; P Rinaldo; W J Rhead; L Tian; D S Millington; J Vockley; D A Hamm; A E Brix; J R Lindsey; C A Pinkert; W E O'Brien; P A Wood
Journal:  Proc Natl Acad Sci U S A       Date:  1998-12-22       Impact factor: 11.205

2.  Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.

Authors:  B Merinero; C Pérez-Cerdá; M J Garcia; J Gangoiti; L M Font; M T Garcia Silva; C Vianey-Saban; M Duran; M Ugarte
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

3.  The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B S Andresen; C Vianey-Saban; P Bross; P Divry; C R Roe; M A Nada; I Knudsen; N Gregersen
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

4.  Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis.

Authors:  K E Baerlocher; B Steinmann; A Aguzzi; S Krähenbühl; C R Roe; C Vianey-Saban
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

5.  Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.

Authors:  Dingding Xiong; Huamei He; Jeanne James; Chonan Tokunaga; Corey Powers; Yan Huang; Hanna Osinska; Jeffrey A Towbin; Enkhsaikhan Purevjav; James A Balschi; Sabzali Javadov; Francis X McGowan; Arnold W Strauss; Zaza Khuchua
Journal:  Am J Physiol Heart Circ Physiol       Date:  2013-11-27       Impact factor: 4.733

6.  Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review.

Authors:  Sharef Waadallah Sharef; Khalfan Al-Senaidi; Surendra Nath Joshi
Journal:  Oman Med J       Date:  2013-09

7.  The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency.

Authors:  C G Costa; L Dorland; I T de Almeida; C Jakobs; M Duran; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1998-06       Impact factor: 4.982

8.  Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B S Andresen; S Olpin; B J Poorthuis; H R Scholte; C Vianey-Saban; R Wanders; L Ijlst; A Morris; M Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; L D Schroeder; T J Corydon; H Lund; V Winter; P Bross; L Bolund; N Gregersen
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 9.  Inborn errors of energy metabolism associated with myopathies.

Authors:  Anibh M Das; Ulrike Steuerwald; Sabine Illsinger
Journal:  J Biomed Biotechnol       Date:  2010-05-26

10.  Stressed-induced TMEM135 protein is part of a conserved genetic network involved in fat storage and longevity regulation in Caenorhabditis elegans.

Authors:  Vernat J Exil; Daiana Silva Avila; Alexandre Benedetto; Elizabeth A Exil; Margaret R Adams; Catherine Au; Michael Aschner
Journal:  PLoS One       Date:  2010-12-03       Impact factor: 3.240
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