Treatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics

No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial

(2022) Jesper H. Storgaard et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders

(2021) Deborah Marsden et al.   GENETICS IN MEDICINE

Effects of triheptanoin ( UX007 ) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label , long‐term extension study

(2020) Jerry Vockley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex

(2019) Yudong Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency

(2018) Guilhian Leipnitz et al.   Scientific Reports

Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers

(2018) Bianca Seminotti et al.   HUMAN MOLECULAR GENETICS

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

(2017) Melanie B. Gillingham et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Bavachinin, as a novel natural pan-PPAR agonist, exhibits unique synergistic effects with synthetic PPAR-γ and PPAR-α agonists on carbohydrate and lipid metabolism in db/db and diet-induced obese mice

(2016) Li Feng et al.   DIABETOLOGIA

Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

(2016) J. Vockley et al.   MOLECULAR GENETICS AND METABOLISM

PPARgene: A Database of Experimentally Verified and Computationally Predicted PPAR Target Genes

(2016) Li Fang et al.   PPAR Research

ssODN-mediated knock-in with CRISPR-Cas for large genomic regions in zygotes

(2016) Kazuto Yoshimi et al.   Nature Communications

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency

(2015) Eugene F. Diekman et al.   GENETICS IN MEDICINE

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

(2015) Fatima Djouadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ginger extract prevents high-fat diet-induced obesity in mice via activation of the peroxisome proliferator-activated receptor δ pathway

(2015) Koichi Misawa et al.   JOURNAL OF NUTRITIONAL BIOCHEMISTRY

Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States

(2015) Marcus J. Miller et al.   MOLECULAR GENETICS AND METABOLISM

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

(2015) Katerina Kraft et al.   Cell Reports

Resveratrol and Its Metabolites Bind to PPARs

(2014) Enrica Calleri et al.   CHEMBIOCHEM

Bezafibrate in skeletal muscle fatty acid oxidation disorders: A randomized clinical trial

(2014) M. C. Orngreen et al.   NEUROLOGY

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency

(2013) Manuel Schiff et al.   MOLECULAR GENETICS AND METABOLISM

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Peroxisome Proliferator-Activated Receptor δ Agonist, HPP593, Prevents Renal Necrosis under Chronic Ischemia

(2013) Larisa V. Fedorova et al.   PLoS One

Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy

(2012) Allison M Keeler et al.   MOLECULAR THERAPY

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

PPARs: Fatty acid sensors controlling metabolism

(2012) Lars la Cour Poulsen et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

(2011) David M S McHugh et al.   GENETICS IN MEDICINE

Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation

(2011) Annie M. Behrend et al.   MOLECULAR GENETICS AND METABOLISM

PrimerBank: a PCR primer database for quantitative gene expression analysis, 2012 update

(2011) X. Wang et al.   NUCLEIC ACIDS RESEARCH

Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches

(2010) Stéphanie Gobin-Limballe et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

(2010) Sander Michel Houten et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency

(2009) Keith B Cox et al.   LABORATORY INVESTIGATION

A comprehensive collection of experimentally validated primers for Polymerase Chain Reaction quantitation of murine transcript abundance

(2008) Athanasia Spandidos et al.   BMC GENOMICS