Associated Papers
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Misceo D et al.
Brain : a Journal of Neurology, 2023
RNA Polymerases I and III in development and disease.
Watt KE et al.
Seminars in Cell & Developmental Biology, 2023
The human RNA polymerase I structure reveals an HMG-like docking domain specific to metazoans.
Daiß JL et al.
Life Science Alliance, 2022
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
Kara B et al.
European Journal of Human Genetics : Ejhg, 2017
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.
Weaver KN et al.
American Journal of Human Genetics, 2015
Select a paper to view details