Leukodystrophy-associated mutations down-regulate the RNA polymerase III transcript and important regulatory RNA (Q64038724)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

0 references

0 references

0 references

0 references

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Martin Teichmann

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

10

Benoit Coulombe

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

12

Claudia L Kleinman

1 reference

30 April 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

2

Diane Forget

1 reference

30 April 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

Karine Choquet

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Elisabeth Meloche

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Marie-Josée Dicaire

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Adeline Vanderver

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Raphael Schiffmann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Marc R Fabian

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

Bernard Brais

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

language of work or name

English

0 references

publication date

21 March 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

Journal of Biological Chemistry

30 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

volume

294

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

issue

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

page(s)

7445-7459

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

30 April 2020

DESeq2

object named as

DESeq2

1 reference

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

Primary structure, neural-specific expression, and dendritic location of human BC200 RNA.

1 reference

12 December 2020

A human glial hybrid cell line differentially expressing genes subserving oligodendrocyte and astrocyte phenotype

1 reference

12 December 2020

The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses

1 reference

12 December 2020

Neuronal untranslated BC1 RNA: targeted gene elimination in mice.

1 reference

12 December 2020

Inhibitory effect of naked neural BC1 RNA or BC200 RNA on eukaryotic in vitro translation systems is reversed by poly(A)-binding protein (PABP).

1 reference

12 December 2020

Tissue-specific differences in human transfer RNA expression

1 reference

12 December 2020

The expanding RNA polymerase III transcriptome

1 reference

12 December 2020

SYNCRIP, a component of dendritically localized mRNPs, binds to the translation regulator BC200 RNA.

1 reference

12 December 2020

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

1 reference

12 December 2020

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

1 reference

12 December 2020

The bridge helix coordinates movements of modules in RNA polymerase

1 reference

12 December 2020

Glial cell lines: an overview

1 reference

12 December 2020

RNA polymerase III transcription control elements: themes and variations

1 reference

12 December 2020

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy

1 reference

12 December 2020

Pol III binding in six mammals shows conservation among amino acid isotypes despite divergence among tRNA genes.

1 reference

12 December 2020

Dual nature of translational control by regulatory BC RNAs

1 reference

12 December 2020

Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy

1 reference

12 December 2020

A multiplicity of factors contributes to selective RNA polymerase III occupancy of a subset of RNA polymerase III genes in mouse liver

1 reference

12 December 2020

Fast gapped-read alignment with Bowtie 2

1 reference

12 December 2020

STAR: ultrafast universal RNA-seq aligner

1 reference

12 December 2020

Genomic study of RNA polymerase II and III SNAPc-bound promoters reveals a gene transcribed by both enzymes and a broad use of common activators.

1 reference

12 December 2020

More than hypomyelination in Pol-III disorder

1 reference

12 December 2020

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

1 reference

12 December 2020

Crystal structure of the 14-subunit RNA polymerase I

1 reference

12 December 2020

Genome engineering using the CRISPR-Cas9 system

1 reference

12 December 2020

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

1 reference

12 December 2020

RNA polymerase III transcriptomes in human embryonic stem cells and induced pluripotent stem cells, and relationships with pluripotency transcription factors

1 reference

12 December 2020

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

1 reference

12 December 2020

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration

1 reference

12 December 2020

Mutations in RARS cause hypomyelination

1 reference

12 December 2020

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders

1 reference

12 December 2020

BEDTools: The Swiss-Army Tool for Genome Feature Analysis.

1 reference

12 December 2020

Neuronal BC RNAs cooperate with eIF4B to mediate activity-dependent translational control

1 reference

12 December 2020

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

1 reference

12 December 2020

Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death

1 reference

12 December 2020

Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2

1 reference

12 December 2020

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

1 reference

12 December 2020

Contributions of in vitro transcription to the understanding of human RNA polymerase III transcription

1 reference

12 December 2020

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect

1 reference

12 December 2020

Loss of the RNA polymerase III repressor MAF1 confers obesity resistance

1 reference

12 December 2020

Oligodendrocytes: Myelination and Axonal Support

1 reference

12 December 2020

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

1 reference

12 December 2020

Efficient and quantitative high-throughput tRNA sequencing.

1 reference

12 December 2020

ARM-seq: AlkB-facilitated RNA methylation sequencing reveals a complex landscape of modified tRNA fragments

1 reference

12 December 2020

Molecular structures of unbound and transcribing RNA polymerase III.

1 reference

12 December 2020

RNA Polymerase III Output Is Functionally Linked to tRNA Dimethyl-G26 Modification.

1 reference

12 December 2020

Human MAF1 targets and represses active RNA polymerase III genes by preventing recruitment rather than inducing long-term transcriptional arrest

1 reference

12 December 2020

Diffuse hypomyelination is not obligate for POLR3-related disorders

1 reference

12 December 2020

RNA Polymerase III Advances: Structural and tRNA Functional Views

1 reference

12 December 2020

Global analysis of transcriptionally engaged yeast RNA polymerase III reveals extended tRNA transcripts

1 reference

12 December 2020

Regulation of alternative splicing of Bcl-x by BC200 contributes to breast cancer pathogenesis

1 reference

12 December 2020

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement

1 reference

12 December 2020

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

1 reference

12 December 2020

BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies.

1 reference

12 December 2020

A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability.

1 reference

12 December 2020

Identifying the cellular location of brain cytoplasmic 200 RNA using an RNA-recognizing antibody

1 reference

12 December 2020

Knockdown of BC200 RNA expression reduces cell migration and invasion by destabilizing mRNA for calcium-binding protein S100A11.

1 reference

12 December 2020

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation

1 reference

12 December 2020

Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.

1 reference

12 December 2020

Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.

1 reference

12 December 2020

Frameshift indels introduced by genome editing can lead to in-frame exon skipping.

1 reference

12 December 2020

The long non-coding RNA BC200 (BCYRN1) is critical for cancer cell survival and proliferation

1 reference

12 December 2020

RNA polymerase I and III: similar yet unique

1 reference

12 December 2020

Biosynthesis of brain cytoplasmic 200 RNA.

1 reference

12 December 2020

Characterizing Expression and Processing of Precursor and Mature Human tRNAs by Hydro-tRNAseq and PAR-CLIP.

1 reference

12 December 2020

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease

1 reference

12 December 2020

Regulation of mRNA Translation in Neurons-A Matter of Life and Death

1 reference

12 December 2020

Structural rearrangements of the RNA polymerase III machinery during tRNA transcription initiation.

1 reference

12 December 2020

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

1 reference

12 December 2020

Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.RA118.006271

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30898877%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

1 reference