tRNA dysregulation and disease

EA Orellana, E Siegal, RI Gregory - Nature Reviews Genetics, 2022 - nature.com
Abstract tRNAs are key adaptor molecules that decipher the genetic code during translation
of mRNAs in protein synthesis. In contrast to the traditional view of tRNAs as ubiquitously …

RNA polymerase III transcription as a disease factor

M Yeganeh, N Hernandez - Genes & development, 2020 - genesdev.cshlp.org
RNA polymerase (Pol) III is responsible for transcription of different noncoding genes in
eukaryotic cells, whose RNA products have well-defined functions in translation and other …

[HTML][HTML] RNA polymerase III subunit mutations in genetic diseases

E Lata, K Choquet, F Sagliocco, B Brais… - Frontiers in Molecular …, 2021 - frontiersin.org
RNA polymerase (Pol) III transcribes small untranslated RNAs such as 5S ribosomal RNA,
transfer RNAs, and U6 small nuclear RNA. Because of the functions of these RNAs, Pol III …

RNA polymerases I and III in development and disease

KEN Watt, J Macintosh, G Bernard… - Seminars in Cell & …, 2023 - Elsevier
Ribosomes are macromolecular machines that are globally required for the translation of all
proteins in all cells. Ribosome biogenesis, which is essential for cell growth, proliferation …

[HTML][HTML] Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy

MA Michell-Robinson, KEN Watt, V Grouza… - Brain, 2023 - academic.oup.com
Abstract RNA polymerase III (Pol III)-related hypomyelinating leukodystrophy (POLR3-HLD),
also known as 4H leukodystrophy, is a severe neurodegenerative disease characterized by …

[PDF][PDF] HSP70 binds to specific non-coding RNA and regulates human RNA polymerase III

S Leone, A Srivastava, A Herrero-Ruiz, B Hummel… - Molecular Cell, 2024 - cell.com
Molecular chaperones are critical for protein homeostasis and are implicated in several
human pathologies such as neurodegeneration and cancer. While the binding of …

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

A Mirchi, SP Guay, LT Tran, NI Wolf… - Journal of medical …, 2023 - jmg.bmj.com
Background RNA polymerase III-related or 4H leukodystrophy (POLR3-HLD) is an
autosomal recessive hypomyelinating leukodystrophy characterized by neurological …

[HTML][HTML] Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation

D Ruan, X Ruan, R Wang, X Lin, Y Zhang, B Lin, S Li… - Scientific Reports, 2024 - nature.com
Hypomyelinating leukodystrophy (HLD) is a rare genetic heterogeneous disease that can
affect myelin development in the central nervous system. This study aims to analyze the …

[HTML][HTML] Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development

J Macintosh, M Michell-Robinson, X Chen… - Frontiers in …, 2023 - frontiersin.org
Introduction RNA polymerase III (Pol III) is a critical enzymatic complex tasked with the
transcription of ubiquitous non-coding RNAs including 5S rRNA and all tRNA genes …

Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy

S Perrier, L Gauquelin, C Fallet-Bianco… - Neurology …, 2020 - AAN Enterprises
Objective To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy
and identify genotype-phenotype correlations through study of patients with extremely …