Evidence map›Paper›PMID 41298489›Full record

ArticleNature communications2025

Very long-chain fatty acids drive 1-deoxySphingolipid toxicity.

Adam Majcher, Gergely Karsai, Elkhan Yusifov, Martina Schaettin, Ermanno Malagola, Peter Horvath, Jinmei Li, Sofía Rodriguez-Gallardo, Kuniyoshi Shimizu, Gai Zhibo and 4 more

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Adam MajcherInstitute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.
Gergely KarsaiInstitute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.ORCID 0000-0002-6840-682X
Elkhan YusifovInstitute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.ORCID 0000-0002-7227-839X
Martina SchaettinDepartment of Reproductive Endocrinology, University Hospital Zurich, Schlieren, Switzerland.
Ermanno MalagolaInstitute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.
Peter HorvathInstitute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland.
Jinmei LiBioio Inc., St. Louis, MO, USA.
Sofía Rodriguez-GallardoInstitut de Pharmacologie Moléculaire et Cellulaire, Université Côte d'Azur - CNRS UMR7275 - Inserm U1323, Valbonne, France.ORCID 0000-0002-5189-5671
Kuniyoshi ShimizuInstitut de Pharmacologie Moléculaire et Cellulaire, Université Côte d'Azur - CNRS UMR7275 - Inserm U1323, Valbonne, France.ORCID 0009-0000-7215-7742
Gai ZhiboDepartment of Clinical Pharmacology and Toxicology, University Hospital Zurich, Zurich, Switzerland.
Raghvendra DubeyDepartment of Reproductive Endocrinology, University Hospital Zurich, Schlieren, Switzerland.
Tim PetersonBioio Inc., St. Louis, MO, USA.
Takeshi HarayamaInstitut de Pharmacologie Moléculaire et Cellulaire, Université Côte d'Azur - CNRS UMR7275 - Inserm U1323, Valbonne, France.ORCID 0000-0003-2255-4197
Thorsten HornemannInstitute of Clinical Chemistry, University Hospital Zurich, Zurich, Switzerland. thorsten.hornemann@usz.ch.ORCID 0000-0002-4218-1087

Funding

Novel insulin-sensitizing NASH/diabetes drugs.R42DK121652 · NIDDK · BIOIO, LLC · PI FINCK, BRIAN N, PETERSON, TIMOTHY R · 2019 to 2022
$1.7M
Drug target identification using CRISPRi/a screeningR41GM137625 · NIGMS · BIOIO, LLC · PI GILBERT, LUKE, PETERSON, TIMOTHY R · 2020 to 2020
$224k
NIDDK NIH HHS R42 DK121652NIGMS NIH HHS R41 GM137625Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (Swiss National Science Foundation) 310030_215134Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (Swiss National Science Foundation) 32ER30_187505
6 · The paper itself

Abstract

1-Deoxysphingolipids (1-deoxySLs) are atypical sphingolipids formed when serine palmitoyltransferase incorporates L-alanine instead of L-serine. Elevated 1-deoxySLs are associated with hereditary sensory neuropathy type 1 and diabetic neuropathy, but the molecular basis of their toxicity remains unclear. Here we show that toxicity is mediated by very long-chain (VLC) 1-deoxy-dihydroceramides (1-deoxyDHCer), particularly nervonyl-1-deoxyDHCer (m18:0/24:1) and lignoceryl-1-deoxyDHCer (m18:0/24:0). Using a CRISPR interference screen, we identify ELOVL1 and CERS2 as essential enzymes driving the formation of these toxic species. Genetic modulation or pharmacological inhibition of ELOVL1 prevents VLC 1-deoxyDHCer accumulation, rescuing the toxicity in cellular and neuronal models. Mechanistic studies reveal that m18:0/24:1 disrupts mitochondrial integrity and induces the mitochondrial permeability transition pore formation and BAX activation, leading to cell death. These findings establish a direct link between 1-deoxySL chemical structure and cytotoxicity and highlight ELOVL1 inhibition as a potential therapeutic strategy for 1-deoxySL-associated diseases.

Indexed as

CeramidesFatty AcidsSphingolipidsAcetyltransferasesAnimalsFatty Acid ElongasesHumansMiceMitochondriaNeuronsSerine C-PalmitoyltransferaseSphingosine N-Acyltransferase1-deoxysphingolipidAcetyltransferasesCeramidesELOVL1 protein, humanFatty Acid ElongasesFatty AcidsSerine C-PalmitoyltransferaseSphingolipidsSphingosine N-Acyltransferase

Identifiers

PMID41298489
PMCPMC12749609

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.