ArticleeLife2022
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway.
Open access · goldAbstract read
In one paragraph
Article in eLife, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
2.5field-weighted citation impact, top 10% of its field
What it found
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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.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Mammalian MemPrep establishes the lipid composition of ER membranes in HEK293T cells.EMBO reports · 2026Article
- Fungal Sphingolipids: Biosynthesis Pathways, Structural Features and Biological Functions.Journal of fungi (Basel, Switzerland) · 2026Review
- PathogenicFrontiers in endocrinology · 2026Article
- Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenicJBMR plus · 2025Article
- Endolysosomal processing of neuron-derived signaling lipids regulates autophagy and lipid droplet degradation in astrocytes.Nature communications · 2025Article
- A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures.Bone reports · 2025Article
- Optical control of sphingolipid biosynthesis using photoswitchable sphingosines.Journal of lipid research · 2025Article
- Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025Review
- Regulation of cellular and systemic sphingolipid homeostasis.Nature reviews. Molecular cell biology · 2024Review
- Complex sphingolipid profiling and identification of an inositol-phosphorylceramide synthase iniScience · 2024Article
- Article
- Endoplasmic Reticulum Membrane Homeostasis and the Unfolded Protein Response.Cold Spring Harbor perspectives in biology · 2024Review
- MemPrep, a new technology for isolating organellar membranes provides fingerprints of lipid bilayer stress.The EMBO journal · 2024Article
- Sorting of complex sphingolipids within the cellular endomembrane systems.Frontiers in cell and developmental biology · 2024Review
- Lipid Sorting and Organelle Identity.Cold Spring Harbor perspectives in biology · 2023Review
- Review
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 6 countries.
Tolulope Sokoya *Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabrück University, Osnabrück, Germany.
Jan Parolek *Molecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabrück University, Osnabrück, Germany.
Mads Møller FogedCell Death and Metabolism Group, Center for Autophagy, Recycling and Disease, Danish Cancer Society Research Center, Copenhagen, Denmark.
Dmytro I DanylchukLaboratoire de Bioimagerie et Pathologies, Université de Strasbourg, Strasbourg, France.
Manuel BozanMolecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabrück University, Osnabrück, Germany.ORCID 0000-0001-8426-369X
Bingshati SarkarMolecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabrück University, Osnabrück, Germany.
Angelika HilderinkMolecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabrück University, Osnabrück, Germany.
Michael PhilippiBiophysics Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabrück University, Osnabrück, Germany.
Lorenzo D BottoDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, United States.
Paulien A TerhalDepartment of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.
Outi MäkitieChildren's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.ORCID 0000-0002-4547-001X
Jacob PiehlerBiophysics Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabrück University, Osnabrück, Germany.ORCID 0000-0002-2143-2270
Yeongho KimDepartment of Cell Biology, Yale School of Medicine, New Haven, United States.ORCID 0000-0002-1477-925X
Christopher G BurdDepartment of Cell Biology, Yale School of Medicine, New Haven, United States.ORCID 0000-0003-1831-8706
Andrey S KlymchenkoLaboratoire de Bioimagerie et Pathologies, Université de Strasbourg, Strasbourg, France.
Kenji MaedaCell Death and Metabolism Group, Center for Autophagy, Recycling and Disease, Danish Cancer Society Research Center, Copenhagen, Denmark.
Joost C M HolthuisMolecular Cell Biology Division, Department of Biology and Center of Cellular Nanoanalytics, Osnabrück University, Osnabrück, Germany.ORCID 0000-0001-8912-1586
Osnabrück University · DEDanish Cancer Society · DKLaboratoire de Biophotonique et Pharmacologie · FRYale University · USUniversity Medical Center Utrecht · NLUniversity of Helsinki · FIUniversity of Utah · US
Funding
Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0MLipid Dynamics in the Golgi ApparatusR35GM144096 · NIGMS · YALE UNIVERSITY · PI Christopher G Burd · 2022 to 2026
$3.4MPtdIns 4-Kinase Regulation of Protein Sorting in the Golgi ApparatusR01GM095766 · NIGMS · YALE UNIVERSITY · PI BURD, CHRISTOPHER G · 2011 to 2021
$2.9MSorting and Trafficking in the Endosomal SystemR37GM061221 · NIGMS · YALE UNIVERSITY · PI BURD, CHRISTOPHER G · 2017 to 2021
$2.0MNCATS NIH HHS UL1 TR002538NIGMS NIH HHS R01 GM095766NIGMS NIH HHS R35 GM144096NIGMS NIH HHS R37 GM061221
Abstract
Sphingomyelin is a dominant sphingolipid in mammalian cells. Its production in the
Indexed as
Secretory PathwaySphingomyelinsAnimalsCholesterolGlycerophospholipidsMammalsMiceMice, KnockoutTransferases (Other Substituted Phosphate Groups)CholesterolGlycerophospholipidsphosphatidylcholine-ceramide phosphocholine transferaseSphingomyelinsTransferases (Other Substituted Phosphate Groups)biochemistrycell biologychemical biologyhumanlipid order probesorganellar lipidomicsosteoporosissphingomyelin biosensortransbilayer lipid asymmetry
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
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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.