A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons.
The RNA exosome is an evolutionarily-conserved ribonuclease complex critically important for precise processing and/or complete degradation of a variety of cellular RNAs. The recent discovery that mutations in genes encoding structural RNA exosome subunits cause tissue-specific diseases makes defini...
Saved in:
| Main Authors: | Derrick J Morton, Binta Jalloh, Lily Kim, Isaac Kremsky, Rishi J Nair, Khuong B Nguyen, J Christopher Rounds, Maria C Sterrett, Brianna Brown, Thalia Le, Maya C Karkare, Kathryn D McGaughey, Shaoyi Sheng, Sara W Leung, Milo B Fasken, Kenneth H Moberg, Anita H Corbett |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2020-07-01
|
| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1008901&type=printable |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Pontocerebellar Hypoplasia Type 3 With Two Novel PCLO Gene Mutations: A Case Report
by: Sethapong Lertsakulbunlue, et al.
Published: (2025-01-01) -
Pontocerebellar Hypoplasia Maps to Chromosome 7q11.23: An Autopsy Case Report of a Novel Genetic Variant
by: Kritika Krishnamurthy, et al.
Published: (2019-01-01) -
Pontocerebellar hypoplasia caused by the <i>TSEN54</i> mutation: clinical and electroencephalographic characteristics based on 3 cases
by: M. Yu. Bobylova, et al.
Published: (2024-07-01) -
Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia
by: Kangyu Liu, et al.
Published: (2025-06-01) -
TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family
by: Hülya Maraş-Genç, et al.
Published: (2015-06-01)