Cargando…

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most abundant fatty acids in the human diet and in body stores, and more than 15 enzymes are involved in long-chain fatty aci...

Descripción completa

Detalles Bibliográficos
Autores principales:	Knottnerus, Suzan J. G., Bleeker, Jeannette C., Wüst, Rob C. I., Ferdinandusse, Sacha, IJlst, Lodewijk, Wijburg, Frits A., Wanders, Ronald J. A., Visser, Gepke, Houtkooper, Riekelt H.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer US 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208583/ https://www.ncbi.nlm.nih.gov/pubmed/29926323 http://dx.doi.org/10.1007/s11154-018-9448-1

Ejemplares similares

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation
por: Verkerk, Arie O., et al.
Publicado: (2021)

Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study
por: Knottnerus, Suzan J. G., et al.
Publicado: (2020)

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates
por: Knottnerus, Suzan J. G., et al.
Publicado: (2020)

Mitochondrial Fatty Acid Oxidation Disorders: Laboratory Diagnosis, Pathogenesis, and the Complicated Route to Treatment
por: Wanders, Ronald J.A., et al.
Publicado: (2020)

Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency
por: Bleeker, Jeannette C., et al.
Publicado: (2020)

Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach
por: Crefcoeur, Loek L., et al.
Publicado: (2022)

Neonatal carnitine concentrations in relation to gestational age and weight
por: Crefcoeur, Loek L., et al.
Publicado: (2020)

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
por: Schwantje, Marit, et al.
Publicado: (2022)

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA
por: Knottnerus, Suzan J. G., et al.
Publicado: (2017)

A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency
por: Ferdinandusse, Sacha, et al.
Publicado: (2019)

Sirtuin activation as a therapeutic approach against inborn errors of metabolism
por: Bleeker, Jeannette C., et al.
Publicado: (2016)

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
por: Bosch, Annet M., et al.
Publicado: (2010)

Confounding factors from inducible systems for spatiotemporal gene expression regulation
por: Wüst, Rob C.I., et al.
Publicado: (2020)

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency
por: van Maldegem, Bianca T., et al.
Publicado: (2010)

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
por: Kingma, Sandra DK, et al.
Publicado: (2013)

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns
por: Crefcoeur, Loek L., et al.
Publicado: (2022)

Metabolic Flexibility as an Adaptation to Energy Resources and Requirements in Health and Disease
por: Smith, Reuben L, et al.
Publicado: (2018)

Ischemic Stroke Causes Disruptions in the Carnitine Shuttle System
por: Mavroudakis, Leonidas, et al.
Publicado: (2023)

A potential role for muscle in glucose homeostasis: in vivo kinetic studies in glycogen storage disease type 1a and fructose-1,6-bisphosphatase deficiency
por: Huidekoper, Hidde H., et al.
Publicado: (2010)

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum
por: Wanders, Ronald J. A., et al.
Publicado: (2016)

Identification of enzymes involved in oxidation of phenylbutyrate
por: Palir, Neža, et al.
Publicado: (2017)

Development and validation of a gas chromatography–mass spectrometry method to analyze octanoate enrichments at low concentrations in human plasma
por: van Harskamp, Dewi, et al.
Publicado: (2020)

Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters
por: van Roermund, Carlo W. T., et al.
Publicado: (2022)

Peroxisomal Metabolite and Cofactor Transport in Humans
por: Chornyi, Serhii, et al.
Publicado: (2021)

Requirements for Carnitine Shuttle-Mediated Translocation of Mitochondrial Acetyl Moieties to the Yeast Cytosol
por: van Rossum, Harmen M., et al.
Publicado: (2016)

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
por: Wanders, Ronald J. A., et al.
Publicado: (2010)

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder
por: Berendse, Kevin, et al.
Publicado: (2013)

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives
por: Bosch, Annet M, et al.
Publicado: (2012)

The Carnitine Shuttle Pathway is Altered in Patients With Neovascular Age-Related Macular Degeneration
por: Mitchell, Sabrina L., et al.
Publicado: (2018)

NAD(+) homeostasis in human health and disease
por: Zapata‐Pérez, Rubén, et al.
Publicado: (2021)

Peroxisomal NAD(H) Homeostasis in the Yeast Debaryomyces hansenii Depends on Two Redox Shuttles and the NAD(+) Carrier, Pmp47
por: Turkolmez, Selva, et al.
Publicado: (2023)

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
por: Sevin, Caroline, et al.
Publicado: (2011)

Metabolic dysregulation in vitamin E and carnitine shuttle energy mechanisms associate with human frailty
por: Rattray, Nicholas J. W., et al.
Publicado: (2019)

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients
por: Vester, Marloes E.M., et al.
Publicado: (2016)

Inborn disorders of the malate aspartate shuttle
por: Broeks, Melissa H., et al.
Publicado: (2021)

Profiling of Carnitine Shuttle System Intermediates in Gliomas Using Solid-Phase Microextraction (SPME)
por: Bogusiewicz, Joanna, et al.
Publicado: (2021)

Medium-Chain Fatty Acids, Beta-Hydroxybutyric Acid and Genetic Modulation of the Carnitine Shuttle Are Protective in a Drosophila Model of ALS Based on TDP-43
por: Manzo, Ernesto, et al.
Publicado: (2018)

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
por: Ferdinandusse, Sacha, et al.
Publicado: (2016)

Zellweger spectrum disorders: clinical overview and management approach
por: Klouwer, Femke C. C., et al.
Publicado: (2015)

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
por: Veenvliet, Annemarijne R.J., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_k7ien51ds63vfe77e2eqrf6dh2