Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population.
Kaur N et al.
American Journal of Medical Genetics. Part A, 2025
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A et al.
Journal of Medical Genetics, 2023
Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.
Pinard M et al.
Molecular Brain, 2022
The human RNA polymerase I structure reveals an HMG-like docking domain specific to metazoans.
Daiß JL et al.
Life Science Alliance, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease.
Naseer MI et al.
Frontiers in Pediatrics, 2022
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Ching-López A et al.
International Journal of Molecular Sciences, 2021
RNA Polymerase III Subunit Mutations in Genetic Diseases.
Lata E et al.
Frontiers in Molecular Biosciences, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L et al.
Neurology. Genetics, 2019
Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia.
Kraoua I et al.
Molecular Genetics & Genomic Medicine, 2019
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
Ghesh L et al.
American Journal of Medical Genetics. Part A, 2019
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.
Walker-Kopp N et al.
Human Molecular Genetics, 2017
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I et al.
Nature Communications, 2015