Evidence map›Paper›PMID 37659504›Full record

ArticleBiochimica et biophysica acta. Molecular cell research2024

ATP1A1-linked diseases require a malfunctioning protein product from one allele.

Kerri Spontarelli, Victoria C Young, Ryan Sweazey, Alexandria Padro, Jeannie Lee, Tulio Bueso, Roberto M Hernandez, Jongyeol Kim, Alexander Katz, Francis Rossignol and 7 more

Registry-linked trialOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Biochimica et biophysica acta. Molecular cell research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03632239 (Reverse Phenotyping Core), which is not on this map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 38% 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.

NCT03632239 enrolling by invitationnot on this map

Reverse Phenotyping Core (RPC)

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2020 to 2028Enrolled1,000ConditionsHarboring of Unexpected Genetic Variant
3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. Article
  3. Association of the RecurrentNeurology. Genetics · 2025
    Article
  4. Article
4 · The record

Corrections and comments

  • Update of
    2023
5 · Who and what money

Authors and funding

17 authors at 5 institutions in 1 country.

Kerri SpontarelliDepartment of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Victoria C YoungDepartment of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Ryan SweazeyDepartment of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Alexandria PadroDepartment of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Jeannie LeeDepartment of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Tulio BuesoDepartment of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Roberto M HernandezDepartment of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Jongyeol KimDepartment of Neurology, Texas Tech University Health Sciences Center, Lubbock, TX, USA.
Alexander KatzNIH Reverse Phenotyping Core, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Francis RossignolNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Clesson TurnerNIH Reverse Phenotyping Core, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Caralynn M WilczewskiNIH Reverse Phenotyping Core, National Institutes of Health, Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
George L MaxwellWomen's Health Integrated Research Center, Inova Health System, Falls Church, VA, USA.
Miguel HolmgrenMolecular Neurophysiology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Jeremy D BailooDepartment of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, TX, USA. Electronic address: jeremy.d.bailoo@ttuhsc.edu.
Sho T YanoNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Molecular Neurophysiology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA; Current address: Section of Pediatric Neurology, Department of Pediatrics, University of Chicago, Chicago, IL, USA. Electronic address: syano@uchicago.edu.
Pablo ArtigasDepartment of Cell Physiology and Molecular Biophysics, Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX, USA. Electronic address: pablo.artigas@ttuhsc.edu.
Texas Tech University · USNational Human Genome Research Institute · USTexas Tech University Health Sciences Center · USNational Institutes of Health · USInova Health System · US

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Reverse Phenotyping CoreZICHG200418 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI TURNER, CLESSON · 2021 to 2025
$5.3M
The NKA Interactome in Health and DiseaseR01HL158649 · NHLBI · LOYOLA UNIVERSITY CHICAGO · PI BOSSUYT, JULIE B, ROBIA, SETH L · 2022 to 2025
$2.7M
Undiagnosed Diseases ProgramZIAHG200421 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2023 to 2025
$825k
Production and evaluation CMT2 mouse models of ATP1A1 loss-of-function-mutation using Cre-LoxP technologyR03NS116433 · NINDS · TEXAS TECH UNIVERSITY HEALTH SCIS CENTER · PI ARTIGAS, PABLO · 2020 to 2021
$213k
NHLBI NIH HHS R01 HL158649NINDS NIH HHS R03 NS116433
6 · The paper itself

Abstract

Heterozygous germline variants in ATP1A1, the gene encoding the α1 subunit of the Na

Indexed as

Charcot-Marie-Tooth DiseaseSodium-Potassium-Exchanging ATPaseAdultAllelesAnimalsHumansMiceProtein IsoformsATP1A1 protein, humanAtp1a1 protein, mouseProtein IsoformsSodium-Potassium-Exchanging ATPaseActive transportATP1A1Charcot Marie ToothHyperaldosteronismInherited neuropathyNa(+),K(+)-ATPaseP-type ATPase

Identifiers

PMID37659504
PMCPMC12701533
OpenAlexW4386375489

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

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.