Associated Papers
RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations.
Shkreta L et al.
Molecular Therapy. Nucleic Acids, 2026
POLR3A-related syndrome complicated with cerebral abscesses: a case report and literature review.
Zhou M et al.
Frontiers in Genetics, 2026
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
Understanding the molecular basis of the mutation in the RNA polymerase III subunit Rpc10 (R41W)- associated with hypomyelinating leukodystrophy in the yeast homolog Rpc11.
Mishra S et al.
Biochemical and Biophysical Research Communications, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Ruan DD et al.
Scientific Reports, 2024
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2024
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
Michell-Robinson MA et al.
Brain : a Journal of Neurology, 2023
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 2023
Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.
Belkevich AE et al.
Molecular and Cellular Biology, 2023
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing.
Peng Q et al.
Frontiers in Molecular Neuroscience, 2022
Defective myelination in an RNA polymerase III mutant leukodystrophic mouse.
Merheb E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.
Oleari R et al.
International Journal of Molecular Sciences, 2021
Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160.
Moir RD et al.
Gene, 2021
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E et al.
Frontiers in Molecular Biosciences, 2021
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.
Morales-Rosado JA et al.
Molecular Genetics & Genomic Medicine, 2020
A novel POLR3A genotype leads to leukodystrophy type-7 in two siblings with unusually late age of onset.
Campopiano R et al.
Bmc Neurology, 2020
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Beauregard-Lacroix E et al.
European Journal of Human Genetics : Ejhg, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis.
Choquet K et al.
Molecular Brain, 2019
Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200.
Choquet K et al.
The Journal of Biological Chemistry, 2019
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Wambach JA et al.
American Journal of Human Genetics, 2018
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.
Tewari VV et al.
Bmc Pediatrics, 2018
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
Choquet K et al.
Molecular Brain, 2017
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.
Wolf NI et al.
Neurology, 2014
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G et al.
American Journal of Human Genetics, 2011