Evidence map›Paper›PMID 40667142›Full record

ArticlebioRxiv : the preprint server for biology2025

Neuronal SEL1L-HRD1 ERAD regulates one-carbon metabolism and is essential for motor function and survival.

Mauricio Torres, You Lu, Brent Pederson, Hui Wang, Anna Gretzinger, Liangguang Leo Lin, Jiwon Hwang, Alan Rupp, Abigail Tomlinson, Andrew J Scott and 5 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Mauricio TorresDepartment of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.ORCID 0000-0002-5081-9044
You LuDepartment of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48105, USA.
Brent PedersonDepartment of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48105, USA.
Hui WangDepartment of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.
Anna GretzingerDepartment of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48105, USA.
Liangguang Leo LinDepartment of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.
Jiwon HwangDepartment of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48105, USA.
Alan RuppDepartment of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48105, USA.
Abigail TomlinsonDepartment of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48105, USA.
Andrew J ScottDepartment of Radiation Oncology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Zhen ZhaoZilkha Neurogenetic Institute, Keck School of Medicine of University of Southern California, Los Angeles, CA 90033, USA.ORCID 0000-0001-8967-5570
Daniel R WahlDepartment of Radiation Oncology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Martin MyersDepartment of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48105, USA.ORCID 0000-0001-9468-2046
Costas A LyssiotisDepartment of Molecular & Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI 48105, USA.ORCID 0000-0001-9309-6141
Ling QiDepartment of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, Charlottesville, VA 22903, USA.ORCID 0000-0001-8229-0184

Funding

PUBLIC HEALTH DEMONSTRATIONP60DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI MYERS, MARTIN G · 1985 to 2012
$26.5M
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3M
Pilot and Feasibility (P and F) ProgramP30DK089503 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Karen Eileen Peterson · 2010 to 2026
$20.3M
ERAD-STING Crosstalk in Microglia: Unraveling the Pathogenesis of Alzheimer's DiseaseR01AG089640 · NIA · UNIVERSITY OF VIRGINIA · PI Ling Qi, Zhen Zhao · 2024 to 2026
$4.1M
Metabolic Phenotyping in Live Models of Obesity and DiabetesU2CDK135066 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Nathan R. Qi · 2023 to 2026
$3.5M
A TIMEM252-dependent Microvascular Endophenotype in Alzheimer’s DiseaseRF1NS122060 · NINDS · UNIVERSITY OF SOUTHERN CALIFORNIA · PI ZHAO, ZHEN · 2021 to 2021
$2.3M
Mechanisms Underlying the Pathogenesis of SEL1L-HRD1 ERAD Disease VariantsR01NS138119 · NINDS · UNIVERSITY OF VIRGINIA · PI Ling Qi, Shengyi Sun · 2025 to 2026
$1.3M
Targeting purine biosynthesis to radiosensitize glioblastomaF32CA260735 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI SCOTT, ANDREW JOSEPH · 2021 to 2023
$185k
NCI NIH HHS F32 CA260735NIA NIH HHS R01 AG089640NIDDK NIH HHS P30 DK020572NIDDK NIH HHS P30 DK089503NIDDK NIH HHS P60 DK020572NIDDK NIH HHS U2C DK135066NINDS NIH HHS R01 NS138119NINDS NIH HHS RF1 NS122060
6 · The paper itself

Abstract

Hypomorphic variants in the SEL1L-HRD1 ER-associated degradation (ERAD) complex have been linked to severe neurological syndromes in children, including neurodevelopmental delay, intellectual disability, motor dysfunction, and early death. Despite this association, its physiological importance and underlying mechanisms in neurons remain poorly understood. Here, we show that neuronal SEL1L-HRD1 ERAD is essential for maintaining one-carbon metabolism, motor function, and overall viability. Neuron-specific deletion of

Indexed as

growth retardationintegrated stress responsemetabolomicsmotor dysfunctionneuronsone-carbon metabolismpremature lethalitySEL1L-HRD1 ERADsingle-nucleus RNA-Seq

Identifiers

PMID40667142
PMCPMC12262411

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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 OpenQuestion graph.