ReviewJournal of inherited metabolic disease2015
Human genetic disorders of sphingolipid biosynthesis.
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 21 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.
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Who cites it
21 citing papers in PubMed, 35 citations in OpenAlex.
- Fundamental Neurochemistry Review: Sphingolipids and Ceramides in Brain Development.Journal of neurochemistry · 2025Review
- The bioactive sphingolipid playbook. A primer for the uninitiated as well as sphingolipidologists.Journal of lipid research · 2025Review
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer's disease.Experimental & molecular medicine · 2024Review
- Cyclophosphamide Induces Lipid and Metabolite Perturbation in Amniotic Fluid during Rat Embryonic Development.Metabolites · 2022Article
- Lipid metabolism and storage in neuroglia: role in brain development and neurodegenerative diseases.Cell & bioscience · 2022Review
- Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report.Acta neurologica Belgica · 2021Article
- Sphingolipid lysosomal storage diseases: from bench to bedside.Lipids in health and disease · 2021Review
- Potential therapeutic target for aging and age-related neurodegenerative diseases: the role of acid sphingomyelinase.Experimental & molecular medicine · 2020Review
- Comparative Lipidomic Analyses Reveal Different Protections in Preterm and Term Breast Milk for Infants.Frontiers in pediatrics · 2020Article
- S1P/S1P Receptor Signaling in Neuromuscolar Disorders.International journal of molecular sciences · 2019Review
- Sphingosine 1-Phosphate (S1P)/ S1P Receptor Signaling and Mechanotransduction: Implications for Intrinsic Tissue Repair/Regeneration.International journal of molecular sciences · 2019Review
- FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.Brain : a journal of neurology · 2019Article
- The Cross-Talk Between Sphingolipids and Insulin-Like Growth Factor Signaling: Significance for Aging and Neurodegeneration.Molecular neurobiology · 2019Review
- DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.The Journal of clinical investigation · 2019Article
- Sphingolipids and their metabolism in physiology and disease.Nature reviews. Molecular cell biology · 2018Review
- Regulation of very-long acyl chain ceramide synthesis by acyl-CoA-binding protein.The Journal of biological chemistry · 2017Article
- Sphingolipids: membrane microdomains in brain development, function and neurological diseases.Open biology · 2017Review
- Evaluation of an amino acid residue critical for the specificity and activity of human Gb3/CD77 synthase.Glycoconjugate journal · 2016Article
- Introduction to Thematic Minireview Series: Novel Bioactive Sphingolipids.The Journal of biological chemistry · 2015Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Monogenic defects of sphingolipid biosynthesis have been recently identified in human patients. These enzyme deficiencies affect the synthesis of sphingolipid precursors, ceramides or complex glycosphingolipids. They are transmitted as autosomal recessive or dominant traits, and their resulting phenotypes often replicate the abnormalities seen in murine models deficient for the corresponding enzymes. In quite good agreement with the known critical roles of sphingolipids in cells from the nervous system and the epidermis, these genetic defects clinically manifest as neurological disorders, including paraplegia, epilepsy or peripheral neuropathies, or present with ichthyosis. The present review summarizes the genetic alterations, biochemical changes and clinical symptoms of this new group of inherited metabolic disorders. Hypotheses regarding the molecular pathophysiology and potential treatments of these diseases are also discussed.
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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.