Cargando…

Plasma lipidomics as a diagnostic tool for peroxisomal disorders

Peroxisomes are ubiquitous cell organelles that play an important role in lipid metabolism. Accordingly, peroxisomal disorders, including the peroxisome biogenesis disorders and peroxisomal single-enzyme deficiencies, are associated with aberrant lipid metabolism. Lipidomics is an emerging tool for...

Descripción completa

Detalles Bibliográficos
Autores principales:	Herzog, Katharina, Pras-Raves, Mia L., Ferdinandusse, Sacha, Vervaart, Martin A. T., Luyf, Angela C. M., van Kampen, Antoine H. C., Wanders, Ronald J. A., Waterham, Hans R., Vaz, Frédéric M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Netherlands 2017
Materias:	Lipidomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959966/ https://www.ncbi.nlm.nih.gov/pubmed/29209936 http://dx.doi.org/10.1007/s10545-017-0114-7

Ejemplares similares

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics
por: Herzog, Katharina, et al.
Publicado: (2017)

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

LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease
por: Yazd, Hoda Safari, et al.
Publicado: (2021)

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

Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation
por: Molenaars, Marte, et al.
Publicado: (2021)

A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegans
por: Gao, Arwen W., et al.
Publicado: (2017)

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect
por: Klouwer, Femke C. C., et al.
Publicado: (2021)

Equivalent carbon number-based targeted odd-chain fatty acyl lipidomics reveals triacylglycerol profiling in clinical colon cancer
por: Zhang, Jiangang, et al.
Publicado: (2023)

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line
por: Klouwer, Femke C. C., et al.
Publicado: (2016)

Examination of lipid profiles in abdominal fascial healing using MALDI-TOF to identify potential therapeutic targets
por: Liu, Hong, et al.
Publicado: (2021)

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
por: Vaz, Frédéric M, et al.
Publicado: (2019)

Lipid analysis by ion mobility spectrometry combined with mass spectrometry: A brief update with a perspective on applications in the clinical laboratory
por: Dubland, Joshua A.
Publicado: (2021)

The clinical translation of eicosanoids and other oxylipins, although challenging, should be actively pursued
por: Gladine, Cécile, et al.
Publicado: (2021)

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

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

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

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

Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome
por: Staps, Pippa, et al.
Publicado: (2020)

Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon Agmo knockdown
por: Sailer, Sabrina, et al.
Publicado: (2022)

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

Aging selectively dampens oscillation of lipid abundance in white and brown adipose tissue
por: Held, Ntsiki M., et al.
Publicado: (2021)

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)

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
por: Berendse, Kevin, et al.
Publicado: (2015)

The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey
por: Gronemeyer, Thomas, et al.
Publicado: (2013)

Correction: The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey
por: Gronemeyer, Thomas, et al.
Publicado: (2013)

Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis
por: Darwisch, Warda, et al.
Publicado: (2020)

Cell Type-Selective Loss of Peroxisomal β-Oxidation Impairs Bipolar Cell but Not Photoreceptor Survival in the Retina
por: Swinkels, Daniëlle, et al.
Publicado: (2022)

Cholic acid therapy in Zellweger spectrum disorders
por: Berendse, Kevin, et al.
Publicado: (2016)

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose
por: Carrier, David J., et al.
Publicado: (2019)

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders
por: Jaspers, Yorrick R. J., et al.
Publicado: (2020)

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

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants
por: Lipiński, Patryk, et al.
Publicado: (2019)

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase
por: Ferdinandusse, Sacha, et al.
Publicado: (2013)

PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease
por: Schlüter, Agatha, et al.
Publicado: (2007)

Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
por: van Weeghel, Michel, et al.
Publicado: (2018)

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells
por: Herzog, Katharina, et al.
Publicado: (2019)

Clinical and biochemical characterization of four patients with mutations in ECHS1
por: Ferdinandusse, Sacha, et al.
Publicado: (2015)

Peroxisomal ABC transporters: functions and mechanism
por: Baker, Alison, et al.
Publicado: (2015)

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
por: Ferdinandusse, Sacha, et al.
Publicado: (2020)

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
por: Ferdinandusse, Sacha, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_knqpq447239d199innl5a6742l