ReviewJournal of inherited metabolic disease2015
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Review in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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
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Who cites it
32 citing papers in PubMed, 54 citations in OpenAlex.
- Barth Syndrome:Genes · 2025Review
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- Anaesthetic management of an infant with MEGD(H)EL syndrome undergoing cochlear implant.BMC anesthesiology · 2024Article
- Neuroglobin overexpression in cerebellar neurons of Harlequin mice improves mitochondrial homeostasis and reduces ataxic behavior.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Primary mitochondrial disorders and mimics: Insights from a large French cohort.Annals of clinical and translational neurology · 2024Article
- Mitochondrial phospholipid metabolism in health and disease.Journal of cell science · 2023Article
- Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.G3 (Bethesda, Md.) · 2023Article
- Sex-Specific Patterns of Diaphragm Phospholipid Content and Remodeling during Aging and in a Model of SELENON-Related Myopathy.Biomedicines · 2023Article
- Photoreactive bioorthogonal lipid probes and their applications in mammalian biology.RSC chemical biology · 2023Article
- Critical Review on Fatty Acid-Based Food and Nutraceuticals as Supporting Therapy in Cancer.International journal of molecular sciences · 2022Review
- Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism.Metabolites · 2022Review
- Exploring the eukaryotic Yip and REEP/Yop superfamily of membrane-shaping adapter proteins (MSAPs): A cacophony or harmony of structure and function?Frontiers in molecular biosciences · 2022Review
- Inborn errors of metabolism associated with 3-methylglutaconic aciduria.Clinica chimica acta; international journal of clinical chemistry · 2021Review
- MEGDEL Syndrome and Its Anesthetic Implications.Cureus · 2021Article
- Phospholipids: Identification and Implication in Muscle Pathophysiology.International journal of molecular sciences · 2021Review
- Beyond Proteostasis: Lipid Metabolism as a New Player in ER Homeostasis.Metabolites · 2021Review
- The Lysophosphatidylserines-An Emerging Class of Signalling Lysophospholipids.The Journal of membrane biology · 2020Review
- Delayed Puberty-Phenotypic Diversity, Molecular Genetic Mechanisms, and Recent Discoveries.Endocrine reviews · 2019Review
- Article
- The Genetic Basis of Delayed Puberty.Frontiers in endocrinology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Since the proposal to define a separate subgroup of inborn errors of metabolism involved in the biosynthesis and remodelling of phospholipids, sphingolipids and long chain fatty acids in 2013, this group is rapidly expanding. This review focuses on the disorders involved in the biosynthesis of phospholipids. Phospholipids are involved in uncountable cellular processes, e.g. as structural components of membranes, by taking part in vesicle and mitochondrial fusion and fission or signal transduction. Here we provide an overview on both pathophysiology and the extremely heterogeneous clinical presentations of the disorders reported so far (Sengers syndrome (due to mutations in AGK), MEGDEL syndrome (or SERAC defect, SERAC1), Barth syndrome (or TAZ defect, TAZ), congenital muscular dystrophy due to CHKB deficiency (CHKB). Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (PCYT1A), atypical haemolytic-uremic syndrome due to DGKE deficiency (DGKE).
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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 OpenQuestion graph.