Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship - Wikidata - awgldk - TriplyDB

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

http://www.wikidata.org/entity/Q28214525

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Q28182405 Q56593471

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Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidation The minor C-allele of rs2014355 in ACADS is associated with reduced insulin release following an oral glucose load Butyrate-induced transcriptional changes in human colonic mucosa Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase Resveratrol and Myopathy Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover Short-chain acyl-coenzyme A dehydrogenase deficiency Stressed-induced TMEM135 protein is part of a conserved genetic network involved in fat storage and longevity regulation in Caenorhabditis elegans Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.Integrated redox proteomics and metabolomics of mitochondria to identify mechanisms of cd toxicity.Metabolic heritability at birth: implications for chronic disease research.c-Myc programs fatty acid metabolism and dictates acetyl-CoA abundance and fate.A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report Epistatic interactions among herbicide resistances in Arabidopsis thaliana: the fitness cost of multiresistance.Prolonged QT interval and lipid alterations beyond β-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts.Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Long-term correction of very long-chain acyl-coA dehydrogenase deficiency in mice using AAV9 gene therapy.The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy Fatty Acid oxidation disorders in a chinese population in taiwan.Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Renal response to short- and long-term exercise in very-long-chain acyl-CoA dehydrogenase-deficient (VLCAD(-/-)) mice.De novo fatty acid biosynthesis and elongation in very long-chain acyl-CoA dehydrogenase-deficient mice supplemented with odd or even medium-chain fatty acids.Genome scan linkage analysis identifies a major quantitative trait loci for fatty acid composition in longissimus dorsi muscle in an F2 intercross between Landrace and Korean native pigs.Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.Atopic dermatitis causes lipid accumulation in the liver of NC/Nga mouse.Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.Fasting-induced oxidative stress in very long chain acyl-CoA dehydrogenase-deficient mice.Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.Mitochondrial fatty acid biosynthesis and muscle fibre plasticity in very long-chain acyl-CoA dehydrogenase-deficient mice.Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan

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Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

http://www.wikidata.org/entity/Q28214525

description

2001 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

@hyw

2001 թվականի սեպտեմբերին հրատարակված գիտական հոդված

@hy

artículu científicu espublizáu en 2001

@ast

im September 2001 veröffentlichter wissenschaftlicher Artikel

@de

scientific article (publication date: September 2001)

@en

vedecký článok (publikovaný 2001-09)

@sk

vědecký článek publikovaný v roce 2001

@cs

wetenschappelijk artikel (gepubliceerd in 2001-09)

@nl

наукова стаття, опублікована у вересні 2001

@uk

مقالة علمية (نشرت في سبتمبر 2001)

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name

Mutation analysis in mitochond ...... enotype-phenotype relationship

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Mutation analysis in mitochond ...... enotype-phenotype relationship

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Mutation analysis in mitochond ...... enotype-phenotype relationship

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Mutation analysis in mitochond ...... enotype-phenotype relationship

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Mutation analysis in mitochond ...... enotype-phenotype relationship

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Mutation analysis in mitochond ...... enotype-phenotype relationship

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B S Andresen

http://www.w3.org/2001/XMLSchema#string

L Bolund

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M J Corydon

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Morten J. Corydon

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N Gregersen

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Niels Gregersen

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P Bross

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R K Olsen

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Rikke K.J. Olsen

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T J Corydon

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P2860

The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.

Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

Mammalian mitochondrial beta-oxidation.

Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.

Omega-oxidation of fatty acids studied in isolated liver cells.

Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence.

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

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169-189

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2011593

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10.1002/HUMU.1174

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Brage Storstein Andresen

Thomas Juhl Corydon

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