Evidence map›Paper›PMID 36993700›Full record

ArticlebioRxiv : the preprint server for biology2023

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.

Audrey G O'Neill, Anika L Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson, Hagar Mor Shaked, Alyssa L Rippert, Tomoki Nomakuchi, Kosuke Izumi and 1 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2023. 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, 4 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 3 countries.

Audrey G O'NeillDepartment of Biochemistry, University of Washington, Seattle, WA, USA.
Anika L BurrellDepartment of Biochemistry, University of Washington, Seattle, WA, USA.
Michael ZechInstitute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.
Orly ElpelegDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Tamar HarelDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Simon EdvardsonAlyn Hospital, Hebrew University School of Medicine, Jerusalem, Israel.
Hagar Mor ShakedDepartment of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Alyssa L RippertDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Tomoki NomakuchiDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Kosuke IzumiDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Justin M KollmanDepartment of Biochemistry, University of Washington, Seattle, WA, USA.
Children's Hospital of Philadelphia · USHebrew University of Jerusalem · ILUniversity of Washington · USAlyn Hospital · ILHelmholtz Zentrum München · DE

Funding

TRAINING IN MOLECULAR BIOPHYSICST32GM008268 · NIGMS · UNIVERSITY OF WASHINGTON · PI KOLLMAN, JUSTIN M, ZHENG, NING · 1988 to 2023
$8.6M
The Structure and Function of Metabolic FilamentsR01GM118396 · NIGMS · UNIVERSITY OF WASHINGTON · PI KOLLMAN, JUSTIN M · 2016 to 2023
$2.9M
Acquisition of a high resolution, high throughput cryo-electron microscopeS10OD023476 · OD · UNIVERSITY OF WASHINGTON · PI KOLLMAN, JUSTIN M · 2017 to 2017
$2.0M
IMPDH1 structure and function in the healthy and diseased retinaF31EY030732 · NEI · UNIVERSITY OF WASHINGTON · PI BURRELL, ANIKA LAUREN · 2019 to 2021
$116k
NEI NIH HHS F31 EY030732NIGMS NIH HHS R01 GM118396NIGMS NIH HHS T32 GM008268NIH HHS S10 OD023476
6 · The paper itself

Abstract

Inosine 5' monophosphate dehydrogenase (IMPDH) is a critical regulatory enzyme in purine nucleotide biosynthesis that is inhibited by the downstream product GTP. Multiple point mutations in the human isoform IMPDH2 have recently been associated with dystonia and other neurodevelopmental disorders, but the effect of the mutations on enzyme function has not been described. Here, we report identification of two additional affected individuals with missense variants in

Indexed as

allosterycryo-EMdystoniaenzyme filamentsIMP dehydrogenaseneurodevelopmentnucleotide biosynthesis

Identifiers

PMID36993700
PMCPMC10055058
OpenAlexW4327612711

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.