ArticleMetabolites2022
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome.
Article in Metabolites, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- Lipid and Metabolite Annotation Using Lipid Data Analyzer.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Cerebrospinal fluid lipid profiles as exploratory biomarkers for pediatric meningitis: a proof-of-concept case series.Frontiers in cellular neuroscience · 2026Article
- Unlocking the Secrets: Causal Associations Between Blood Metabolites and Aspergillosis.Current microbiology · 2025Article
- A Computational Approach to Identify Novel Protein Targets Uncovers New Potential Mechanisms of Action of Mirtazapine S(+) and R(-) Enantiomers in Rett Syndrome.Journal of neurochemistry · 2025Article
- Metabolomic and Lipidomic Alterations in Patients with Atopic Dermatitis with Dupilumab-Associated Ocular Surface Disease.JID innovations : skin science from molecules to population health · 2025Article
- Review: Utility of mass spectrometry in rare disease research and diagnosis.NPJ genomic medicine · 2025Review
- Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients.Journal of neurology · 2025Article
- Unraveling autophagic imbalances and therapeutic insights in Mecp2-deficient models.EMBO molecular medicine · 2024Article
- Modulation of Brain Cholesterol Metabolism through CYP46A1 Overexpression for Rett Syndrome.Pharmaceutics · 2024Article
- The expanding diagnostic toolbox for rare genetic diseases.Nature reviews. Genetics · 2024Review
- Phospholipidomics in Clinical Trials for Brain Disorders: Advancing our Understanding and Therapeutic Potentials.Molecular neurobiology · 2024Review
- Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials.Brain sciences · 2024Review
- Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome.Journal of translational medicine · 2023Article
- Ultraviolet exposure regulates skin metabolome based on the microbiome.Scientific reports · 2023Article
- Chewing the fat: How lipidomics is changing our understanding of human health and disease in 2022.Analytical science advances · 2023Review
- Lipidomics-Paving the Road towards Better Insight and Precision Medicine in Rare Metabolic Diseases.International journal of molecular sciences · 2023Review
- Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.iScience · 2022Article
- Associations of the Lipidome with Ageing, Cognitive Decline and Exercise Behaviours.Metabolites · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 6 institutions in 3 countries.
Funding
Abstract
Rett syndrome (RTT) is defined as a rare disease caused by mutations of the methyl-CpG binding protein 2 (MECP2). It is one of the most common causes of genetic mental retardation in girls, characterized by normal early psychomotor development, followed by severe neurologic regression. Hitherto, RTT lacks a specific biomarker, but altered lipid homeostasis has been found in RTT model mice as well as in RTT patients. We performed LC-MS/MS lipidomics analysis to investigate the cerebrospinal fluid (CSF) and plasma composition of patients with RTT for biochemical variations compared to healthy controls. In all seven RTT patients, we found decreased CSF cholesterol levels compared to age-matched controls (
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.