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Literature DB >> 18392740

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.

Abstract

Enzyme defects in the mitochondrial fatty acid oxidation (FAO) are a large family of inherited metabolic disease well characterized clinically and genetically, but for which pharmacological strategies remain limited. It is now well established that regulation of genes involved in mitochondrial FAO is under control of the PPAR (peroxisome proliferator activated receptor) signalling pathway, and this led us to test a possible pharmacological correction of FAO disorders by fibrates and other PPAR activators. This review presents the basic data supporting our initial hypothesis, summarizes the results obtained in cells from patients with CPT II (carnitine palmitoyltransferase II) or VLCAD (very long-chain acyl-CoA dehydrogenase) deficiency, and discusses the perspectives and limits of this approach for therapy of these disorders.

Entities: Chemical Disease Gene Species

Mesh：

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Year: 2008 PMID： 18392740 DOI： 10.1007/s10545-008-0844-7

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

48 in total

Review 1. Diagnosis and management of defects of mitochondrial beta-oxidation.

Authors: Jerry Vockley; Rani H Singh; David A H Whiteman
Journal: Curr Opin Clin Nutr Metab Care Date: 2002-11 Impact factor: 4.294

2. Management of fatty acid oxidation disorders: a survey of current treatment strategies.

Authors: Java O Solis; Rani H Singh
Journal: J Am Diet Assoc Date: 2002-12

3. 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

4. Screening newborns for inborn errors of metabolism by tandem mass spectrometry.

Authors: Bridget Wilcken; Veronica Wiley; Judith Hammond; Kevin Carpenter
Journal: N Engl J Med Date: 2003-06-05 Impact factor: 91.245

5. Bezafibrate is a dual ligand for PPARalpha and PPARbeta: studies using null mice.

Authors: Jeffrey M Peters; Toshifumi Aoyama; Amanda M Burns; Frank J Gonzalez
Journal: Biochim Biophys Acta Date: 2003-06-10

Review 6. Bezafibrate. A review of its pharmacodynamic and pharmacokinetic properties, and therapeutic use in hyperlipidaemia.

Authors: J P Monk; P A Todd
Journal: Drugs Date: 1987-06 Impact factor: 9.546

Review 7. Peroxisome proliferator-activated receptor alpha target genes.

Authors: S Mandard; M Müller; S Kersten
Journal: Cell Mol Life Sci Date: 2004-02 Impact factor: 9.261

Review 8. Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects.

Authors: Jean-Paul Bonnefont; Fatima Djouadi; Carina Prip-Buus; Stephanie Gobin; Arnold Munnich; Jean Bastin
Journal: Mol Aspects Med Date: 2004 Oct-Dec

9. Targeted disruption of the alpha isoform of the peroxisome proliferator-activated receptor gene in mice results in abolishment of the pleiotropic effects of peroxisome proliferators.

Authors: S S Lee; T Pineau; J Drago; E J Lee; J W Owens; D L Kroetz; P M Fernandez-Salguero; H Westphal; F J Gonzalez
Journal: Mol Cell Biol Date: 1995-06 Impact factor: 4.272

10. Steady-state kinetics of bezafibrate and clofibrate in healthy female volunteers.

Authors: U Abshagen; S Spörl-Radun; J Marinow
Journal: Eur J Clin Pharmacol Date: 1980-04 Impact factor: 2.953

18 in total

Review 1. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Authors: Kenji Yamada; Takeshi Taketani
Journal: J Hum Genet Date: 2018-11-06 Impact factor: 3.172

2. Perfluoroalkyl acids-induced liver steatosis: Effects on genes controlling lipid homeostasis.

Authors: Kaberi P Das; Carmen R Wood; Mimi T Lin; Anatoly A Starkov; Christopher Lau; Kendall B Wallace; J Christopher Corton; Barbara D Abbott
Journal: Toxicology Date: 2016-12-31 Impact factor: 4.221

Review 3. Mitochondrial energetics and therapeutics.

Authors: Douglas C Wallace; Weiwei Fan; Vincent Procaccio
Journal: Annu Rev Pathol Date: 2010 Impact factor: 23.472

4. No effect of bezafibrate in patients with CPTII and VLCAD deficiencies.

Authors: Mette Cathrine Ørngreen; John Vissing; Pascal Laforét
Journal: J Inherit Metab Dis Date: 2014-10-21 Impact factor: 4.982

5. Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.

Authors: Christina B Pedersen; Zarazuela Zolkipli; Søren Vang; Johan Palmfeldt; Margrethe Kjeldsen; Vibeke Stenbroen; Stinne P Schmidt; Ronald J A Wanders; Jos P N Ruiter; Flemming Wibrand; Ingrid Tein; Niels Gregersen
Journal: J Inherit Metab Dis Date: 2010-05-05 Impact factor: 4.982

6. Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

Authors: Fatima Djouadi; Florence Habarou; Carole Le Bachelier; Sacha Ferdinandusse; Dimitri Schlemmer; Jean François Benoist; Audrey Boutron; Brage S Andresen; Gepke Visser; Pascale de Lonlay; Simon Olpin; Toshiyuki Fukao; Seiji Yamaguchi; Arnold W Strauss; Ronald J A Wanders; Jean Bastin
Journal: J Inherit Metab Dis Date: 2015-06-25 Impact factor: 4.982

7. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Authors: Loren D M Pena; Sandra C van Calcar; Joyanna Hansen; Mathew J Edick; Cate Walsh Vockley; Nancy Leslie; Cynthia Cameron; Al-Walid Mohsen; Susan A Berry; Georgianne L Arnold; Jerry Vockley
Journal: Mol Genet Metab Date: 2016-05-13 Impact factor: 4.797