Associated Papers
RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations.
Shkreta L et al.
Molecular Therapy. Nucleic Acids, 2026
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 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
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 2023
Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.
Macintosh J et al.
Frontiers in Neuroscience, 2023
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Sun L et al.
Frontiers in Neurology, 2023
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Musumeci A et al.
Biomedicines, 2022
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Di Donato I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Adult onset POLR3A leukodystrophy presenting with parkinsonism treated with pallidal deep brain stimulation.
Kyle K et al.
Parkinsonism & Related Disorders, 2021
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
Di Bella D et al.
European Journal of Neurology, 2021
Functional characterization of Polr3a hypomyelinating leukodystrophy mutations in the S. cerevisiae homolog, RPC160.
Moir RD et al.
Gene, 2021
POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
Coulombe B et al.
Faculty Reviews, 2021
Case Report: Severe Osteoporosis and Preventive Therapy in RNA Polymerase III-Related Leukodystrophy.
Furukawa S et al.
Frontiers in Neurology, 2021
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E et al.
Frontiers in Molecular Biosciences, 2021
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
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
Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.
Kunii M et al.
Clinical Genetics, 2018
[A case of hypomyelinating leukodystrophy with new homozygous mutation in POLR3A].
Tamura A et al.
Rinsho Shinkeigaku = Clinical Neurology, 2013
Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.
Terao Y et al.
Journal of the Neurological Sciences, 2012
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
Role of epigenetics and alterations in RNA metabolism in leukodystrophies.
Rey F et al.
Wiley Interdisciplinary Reviews. Rna, 0