Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200

Antzeko izenburuak

• Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
  nork: Tétreault, Martine, et al.
  Argitaratua: (2011)
• Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
  nork: Choquet, Karine, et al.
  Argitaratua: (2017)
• The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis
  nork: Choquet, Karine, et al.
  Argitaratua: (2019)
• POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?
  nork: Coulombe, Benoit, et al.
  Argitaratua: (2021)
• Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
  nork: Thiffault, Isabelle, et al.
  Argitaratua: (2015)