Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
Abstract Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which is responsible for the transcription of transfer R...
Main Authors: | Karine Choquet, Sharon Yang, Robyn D. Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E. Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M. Willis, Claudia L. Kleinman, Bernard Brais |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2017-04-01
|
Series: | Molecular Brain |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13041-017-0294-y |
Similar Items
-
Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
by: Julia Macintosh, et al.
Published: (2023-10-01) -
The leukodystrophy mutation Polr3b R103H causes homozygote mouse embryonic lethality and impairs RNA polymerase III biogenesis
by: Karine Choquet, et al.
Published: (2019-06-01) -
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation
by: Dan-dan Ruan, et al.
Published: (2024-04-01) -
Hypomyelinating leukodystrophy and movement disorders
by: Jacky Ganguly, et al.
Published: (2023-01-01) -
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs)
by: Tomohiro Torii, et al.
Published: (2023-09-01)