Evidence map›Paper›PMID 38129665›Full record

ArticleCommunications biology2023

Chromatin regulator SMARCAL1 modulates cellular lipid metabolism.

Taylor Hanta Nagai, Chrissy Hartigan, Taiji Mizoguchi, Haojie Yu, Amy Deik, Kevin Bullock, Yanyan Wang, Debra Cromley, Monica Schenone, Chad A Cowan and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Communications biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.9field-weighted citation impact, top 22% of its field
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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. 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 at 6 institutions in 1 country.

Taylor Hanta NagaiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Chrissy HartiganBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Taiji MizoguchiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Haojie YuDivision of Cardiovascular Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, 02215, USA.ORCID 0000-0002-0559-0252
Amy DeikBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0000-0002-9687-0953
Kevin BullockBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Yanyan WangCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Debra CromleyDivision of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Monica SchenoneBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0000-0002-6456-8768
Chad A CowanDivision of Cardiovascular Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, 02215, USA.
Daniel J RaderDivision of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Clary B ClishBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0000-0001-8259-9245
Steven A CarrBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Yu-Xin XuCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA. yuxin.xu2006@gmail.com.ORCID 0000-0002-0200-4633
Broad Institute · USMassachusetts General Hospital · USBeth Israel Deaconess Medical Center · USHarvard University · USTranslational Therapeutics (United States) · USUniversity of Pennsylvania · US

Funding

ROLE OF DIETARY CONSTITUENTS ON GENE EXPRESSION IN INTESTINAL EPITHELIUMP30DK040561 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Takara Leah Stanley · 1994 to 2026
$31.6M
Systematic cell-based functional screening for LDL and triglyceride genesR33HL120781 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI COWAN, CHAD ALBERT, KATHIRESAN, SEKAR · 2016 to 2018
$1.6M
NHLBI NIH HHS R33 HL120781NIDDK NIH HHS P30 DK040561
6 · The paper itself

Abstract

Biallelic mutations of the chromatin regulator SMARCAL1 cause Schimke Immunoosseous Dysplasia (SIOD), characterized by severe growth defects and premature mortality. Atherosclerosis and hyperlipidemia are common among SIOD patients, yet their onset and progression are poorly understood. Using an integrative approach involving proteomics, mouse models, and population genetics, we investigated SMARCAL1's role. We found that SmarcAL1 interacts with angiopoietin-like 3 (Angptl3), a key regulator of lipoprotein metabolism. In vitro and in vivo analyses demonstrate SmarcAL1's vital role in maintaining cellular lipid homeostasis. The observed translocation of SmarcAL1 to cytoplasmic peroxisomes suggests a potential regulatory role in lipid metabolism through gene expression. SmarcAL1 gene inactivation reduces the expression of key genes in cellular lipid catabolism. Population genetics investigations highlight significant associations between SMARCAL1 genetic variations and body mass index, along with lipid-related traits. This study underscores SMARCAL1's pivotal role in cellular lipid metabolism, likely contributing to the observed lipid phenotypes in SIOD patients.

Indexed as

Immunologic Deficiency SyndromesAnimalsArteriosclerosisChromatinDNA HelicasesHumansLipid MetabolismLipidsMiceNephrotic SyndromeOsteochondrodysplasiasPrimary Immunodeficiency DiseasesPulmonary EmbolismChromatinDNA HelicasesLipidsSMARCAL1 protein, humanSmarcal1 protein, mouse

Identifiers

PMID38129665
PMCPMC10739977
OpenAlexW4390050032

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.