Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing
Authors
Keywords
-
Journal
NATURE GENETICS
Volume 49, Issue 3, Pages 457-464
Publisher
Springer Nature
Online
2017-01-17
DOI
10.1038/ng.3762
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
- (2016) Martin W. Breuss et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The RNase PARN-1 Trims piRNA 3′ Ends to Promote Transcriptome Surveillance in C. elegans
- (2016) Wen Tang et al. CELL
- Identification and Functional Analysis of the Pre-piRNA 3′ Trimmer in Silkworms
- (2016) Natsuko Izumi et al. CELL
- Robust transcriptome-wide discovery of RNA-binding protein binding sites with enhanced CLIP (eCLIP)
- (2016) Eric L Van Nostrand et al. NATURE METHODS
- Competition between Decapping Complex Formation and Ubiquitin-Mediated Proteasomal Degradation Controls Human Dcp2 Decapping Activity
- (2015) Stacy L. Erickson et al. MOLECULAR AND CELLULAR BIOLOGY
- Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction
- (2015) Naiara Akizu et al. NATURE GENETICS
- CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
- (2014) Ashleigh E. Schaffer et al. CELL
- Quality control of assembly-defective U1 snRNAs by decapping and 5'-to-3' exonucleolytic digestion
- (2014) S. Shukla et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders
- (2014) G. Novarino et al. SCIENCE
- 3′ terminal diversity of MRP RNA and other human noncoding RNAs revealed by deep sequencing
- (2013) Katherine C Goldfarb et al. BMC MOLECULAR BIOLOGY
- Whole-genome screening identifies proteins localized to distinct nuclear bodies
- (2013) Ka-wing Fong et al. JOURNAL OF CELL BIOLOGY
- CLP1 links tRNA metabolism to progressive motor-neuron loss
- (2013) Toshikatsu Hanada et al. NATURE
- CBC–ARS2 stimulates 3′-end maturation of multiple RNA families and favors cap-proximal processing
- (2013) Marie Hallais et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- Mutation of a U2 snRNA Gene Causes Global Disruption of Alternative Splicing and Neurodegeneration
- (2012) Yichang Jia et al. CELL
- Differentially expressed, variant U1 snRNAs regulate gene expression in human cells
- (2012) D. O'Reilly et al. GENOME RESEARCH
- Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
- (2012) Jijun Wan et al. NATURE GENETICS
- Maturation of mammalian H/ACA box snoRNAs: PAPD5-dependent adenylation and PARN-dependent trimming
- (2012) H. Berndt et al. RNA
- Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?
- (2011) Christopher Anderson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Deep proteome and transcriptome mapping of a human cancer cell line
- (2011) N. Nagaraj et al. Molecular Systems Biology
- Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
- (2010) Yasmin Namavar et al. BRAIN
- tRNA biology charges to the front
- (2010) E. M. Phizicky et al. GENES & DEVELOPMENT
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
- (2009) Stuart M Chambers et al. NATURE BIOTECHNOLOGY
- Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
- (2009) C. Vance et al. SCIENCE
- tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
- (2008) Birgit S Budde et al. NATURE GENETICS
- Multifunctional deadenylase complexes diversify mRNA control
- (2008) Aaron C. Goldstrohm et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started