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
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A et al.
Molecular Genetics & Genomic Medicine, 2024
A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy.
Yang H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Perrier S et al.
Frontiers in Neurology, 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
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
Saitsu H et al.
American Journal of Human Genetics, 2011
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