Cargando…

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. Virtually all males develop progressive myelopathy (AMN). A subset of patients, however, develops a fatal cerebral demy...

Descripción completa

Detalles Bibliográficos
Autores principales:	van de Beek, Malu-Clair, Dijkstra, Inge M. E., van Lenthe, Henk, Ofman, Rob, Goldhaber-Pasillas, Dalia, Schauer, Nicolas, Schackmann, Martin, Engelen-Lee, Joo-Yeon, Vaz, Frédéric M., Kulik, Wim, Wanders, Ronald J. A., Engelen, Marc, Kemp, Stephan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849772/ https://www.ncbi.nlm.nih.gov/pubmed/27124591 http://dx.doi.org/10.1371/journal.pone.0154597

Ejemplares similares

Bezafibrate for X-Linked Adrenoleukodystrophy
por: Engelen, Marc, et al.
Publicado: (2012)

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
por: Engelen, Marc, et al.
Publicado: (2012)

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
por: Ofman, Rob, et al.
Publicado: (2010)

Evolution of adrenoleukodystrophy model systems
por: Montoro, Roberto, et al.
Publicado: (2021)

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
por: Engelen, Marc, et al.
Publicado: (2012)

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need
por: Honey, Madison I. J., et al.
Publicado: (2021)

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy
por: Albersen, Monique, et al.
Publicado: (2022)

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
por: Barendsen, Rinse W., et al.
Publicado: (2020)

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)

Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
por: Barendsen, Rinse W., et al.
Publicado: (2021)

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy
por: van Ballegoij, Wouter J. C., et al.
Publicado: (2020)

Attitudes of Patients with Adrenoleukodystrophy towards Sex-Specific Newborn Screening
por: Yska, Hemmo A. F., et al.
Publicado: (2023)

Disease progression in women with X-linked adrenoleukodystrophy is slow
por: Huffnagel, Irene C., et al.
Publicado: (2019)

Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy
por: van de Stadt, Stephanie I. W., et al.
Publicado: (2020)

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy
por: Mallack, Eric J., et al.
Publicado: (2022)

Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy
por: van Ballegoij, Wouter J. C., et al.
Publicado: (2020)

Optical coherence tomography to measure the progression of myelopathy in adrenoleukodystrophy
por: van Ballegoij, Wouter J. C., et al.
Publicado: (2021)

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy
por: Richmond, Phillip A., et al.
Publicado: (2020)

Magnetic resonance spectroscopy as marker for neurodegeneration in X-linked adrenoleukodystrophy
por: van de Stadt, Stephanie I.W., et al.
Publicado: (2021)

Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy
por: van Ballegoij, Wouter J. C., et al.
Publicado: (2019)

Correction to: Optical coherence tomography shows neuroretinal thinning in myelopathy of adrenoleukodystrophy
por: van Ballegoij, Wouter J. C., et al.
Publicado: (2020)

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)

Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI
por: Buermans, Noortje J. M. L., et al.
Publicado: (2019)

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach
por: Engelen, Marc, et al.
Publicado: (2022)

Jasmonic Acid Effect on the Fatty Acid and Terpenoid Indole Alkaloid Accumulation in Cell Suspension Cultures of Catharanthus roseus
por: Goldhaber-Pasillas, Guitele Dalia, et al.
Publicado: (2014)

Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy
por: Natarajan, Archana, et al.
Publicado: (2021)

Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report
por: Horn, Morten A., et al.
Publicado: (2015)

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

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
por: Weinhofer, Isabelle, et al.
Publicado: (2023)

Childhood cerebral adrenoleukodystrophy
por: Mittal, Aliza, et al.
Publicado: (2014)

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio
por: Vaz, Frédéric M., et al.
Publicado: (2021)

The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)
por: El Hajj, H. I., et al.
Publicado: (2012)

Pathophysiology of X-linked adrenoleukodystrophy()
por: Berger, J., et al.
Publicado: (2014)

Multiple sclerosis in an adrenoleukodystrophy carrier
por: Jenkins, Thomas, et al.
Publicado: (2011)

Anesthesia in a child with adrenoleukodystrophy
por: Yang, Hun-Ju, et al.
Publicado: (2014)

Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy
por: Zierfuss, Bettina, et al.
Publicado: (2020)

Delayed life-threatening subdural hematoma after minor head injury in a patient with severe coagulopathy: a case report
por: Engelen, Marc, et al.
Publicado: (2009)

Chitotriosidase as a biomarker of cerebral adrenoleukodystrophy
por: Orchard, Paul J, et al.
Publicado: (2011)

X-linked adrenoleukodystrophy in 8 patients
por: Meng, Zhe, et al.
Publicado: (2015)

An unusual presentation of X-linked adrenoleukodystrophy
por: Suryawanshi, Avinash, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_1tmr0u9k59aib9pibkn5s7hli1