Evidence map›Paper›PMID 40661833›Full record

ArticleHuman mutation2025

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Jenifer S Calvo, Tomáš Heger, Ekaterina Kabin, William R Mowrey, Guillermo Del Angel, Wei Ding, Svetlana Lutsenko

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Review
  4. Article
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

7 authors.

Jenifer S CalvoDepartment of Physiology, Johns Hopkins Medical Institutes, Baltimore, Maryland, USA.ORCID 0000-0002-0938-2602
Tomáš HegerDepartment of Molecular Biology and Genetics, Danish Research Institute of Translational Neuroscience (DANDRITE), Nordic EMBL Partnership for Molecular Medicine, Aarhus University, Aarhus, Denmark.ORCID 0000-0002-5043-4582
Ekaterina KabinDepartment of Physiology, Johns Hopkins Medical Institutes, Baltimore, Maryland, USA.ORCID 0000-0001-8427-1649
William R MowreyAlexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA.ORCID 0000-0001-9531-9409
Guillermo Del AngelAlexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA.
Wei DingAlexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA.ORCID 0009-0009-4339-2001
Svetlana LutsenkoDepartment of Physiology, Johns Hopkins Medical Institutes, Baltimore, Maryland, USA.ORCID 0000-0001-5275-2587

Funding

ChimeraX -- Next Generation Visualization and Analysis Software for Multiscale ModelingR01GM129325 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI FERRIN, THOMAS E · 2018 to 2025
$5.2M
NIGMS NIH HHS R01 GM129325
6 · The paper itself

Abstract

Wilson disease is a disorder of copper (Cu) homeostasis caused by the malfunction of Cu transporter ATP7B and associated Cu accumulation in tissues. The existence of over 700 disease-associated variants in the

Indexed as

Copper-Transporting ATPasesHepatolenticular DegenerationMutationBiological TransportCopperFibroblastsGenetic Association StudiesHumansATP7B protein, humanCopperCopper-Transporting ATPasesATP7BcoppermutationsvariantsWilson disease

Identifiers

PMID40661833
PMCPMC12259332

What OpenQuestion holds

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LicenceCC BY
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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.