Evidence map›Paper›PMID 36828035›Full record

ArticleProgress in neurobiology2023

WWOX P47T partial loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12.

Tabish Hussain, Kevin Sanchez, Jennifer Crayton, Dhurjhoti Saha, Collene Jeter, Yue Lu, Martin Abba, Ryan Seo, Jeffrey L Noebels, Laura Fonken and 1 more

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

Article in Progress in neurobiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
3.4field-weighted citation impact, top 7% 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

6 citing papers in PubMed, 11 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. B-cell-specificBlood neoplasia · 2025
    Article
  5. Article
  6. 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

11 authors at 3 institutions in 1 country.

Tabish HussainDepartment of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA.
Kevin SanchezDivision of Pharmacology and Toxicology, College of Pharmacy, The University of Texas at Austin, Austin, TX 78712, USA.
Jennifer CraytonDepartment of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA.
Dhurjhoti SahaDepartment of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA.
Collene JeterDepartment of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA.
Yue LuDepartment of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA.
Martin AbbaCentro de Investigaciones Inmunológicas Básicas y Aplicadas, School of Medicine, Universidad de La Plata, La Plata 1900, Argentina.
Ryan SeoDevelopmental Neurogenetics Laboratory, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
Jeffrey L NoebelsDevelopmental Neurogenetics Laboratory, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
Laura FonkenDivision of Pharmacology and Toxicology, College of Pharmacy, The University of Texas at Austin, Austin, TX 78712, USA.
C Marcelo AldazDepartment of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA. Electronic address: maaldaz@mdanderson.org.
The University of Texas MD Anderson Cancer Center · USBaylor College of Medicine · USThe University of Texas at Austin · US

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI DIANE BODURKA · 1985 to 2026
$290.8M
PLASTICITY IN DEVELOPING EPILEPTIC BRAINR01NS029709 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI NOEBELS, JEFFREY · 1991 to 2025
$9.1M
Disrupted Circadian Regulation of Cell Migration at CNS-Immune Interfaces in Aging and Alzheimer's DiseaseR01AG078758 · NIA · UNIVERSITY OF TEXAS AT AUSTIN · PI Laura K Fonken · 2022 to 2026
$2.9M
Targeting age-related neuroinflammation and postoperative cognitive decline: a microbial-based approachR01AG062716 · NIA · UNIVERSITY OF TEXAS AT AUSTIN · PI FONKEN, LAURA K · 2020 to 2024
$2.4M
NCI NIH HHS P30 CA016672NIA NIH HHS R01 AG062716NIA NIH HHS R01 AG078758NINDS NIH HHS R01 NS029709
6 · The paper itself

Abstract

WWOX gene loss-of-function (LoF) has been associated with neuropathologies resulting in developmental, epileptic, and ataxic phenotypes of varying severity based on the level of WWOX dysfunction. WWOX gene biallelic germline variant p.Pro47Thr (P47T) has been causally associated with a new form of autosomal recessive cerebellar ataxia with epilepsy and intellectual disability (SCAR12, MIM:614322). This mutation affecting the WW1 protein binding domain of WWOX, impairs its interaction with canonical proline-proline-X-tyrosine motifs in partner proteins. We generated a mutant knock-in mouse model of Wwox P47T mutation that phenocopies human SCAR12. Wwox

Indexed as

Cerebellar DiseasesEpilepsyNeurodegenerative DiseasesAnimalsHumansMiceMutationNeuroinflammatory DiseasesPhenotypeTumor Suppressor ProteinsWW Domain-Containing OxidoreductaseTumor Suppressor ProteinsWW Domain-Containing OxidoreductaseWWOX protein, humanAtaxiaEpilepsyNeurodegenerationNeuroinflammationSCAR12WWOX

Identifiers

PMID36828035
PMCPMC10835625
OpenAlexW4321487344

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.