ArticleThe Journal of biological chemistry2019
Leukodystrophy-associated
Article in The Journal of biological chemistry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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.
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.
Who cites it
35 citing papers in PubMed, 63 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.Annals of neurology · 2026Article
- RNA Polymerase III subunit Polr3a is required for craniofacial cartilage and bone development in zebrafish.PLoS genetics · 2026Article
- RNA-based discovery and correction of splicing defects caused byMolecular therapy. Nucleic acids · 2026Article
- Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.Cell communication and signaling : CCS · 2026Article
- Assessment the Efficacy of the CRISPR System for Inducing Mutations in the AIMP2 Gene to Create a Cell Line Model of HLD17 Disease.Molecular biotechnology · 2025Article
- POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.Italian journal of pediatrics · 2025Article
- Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.Genome medicine · 2025Article
- Article
- Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.Biomolecules · 2024Review
- Molecular basis of neurodegeneration in a mouse model ofbioRxiv : the preprint server for biology · 2024Article
- Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.Scientific reports · 2024Article
- Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.Brain : a journal of neurology · 2023Article
- Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inJournal of medical genetics · 2023Article
- RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023Review
- A Chinese patient withFrontiers in neurology · 2023Article
- Biallelic pathogenic variants inFrontiers in neurology · 2023Article
- Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.Molecular brain · 2022Article
- tRNA dysregulation and disease.Nature reviews. Genetics · 2022Review
- Identification of a Novel Missense Mutation ofBiomedicines · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 7 institutions in 4 countries.
Funding
Abstract
RNA polymerase III (Pol III) is an essential enzyme responsible for the synthesis of several small noncoding RNAs, a number of which are involved in mRNA translation. Recessive mutations in
Indexed as
Identifiers
What OpenQuestion holds
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.