Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation (Q33564675)

28 July 2017

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

1 reference

hypomyelinating leukodystrophy

28 July 2017

1 reference

1 reference

18

Bernard Brais

0 references

Roxanne Larivière

5

Roxanne Larivière

0 references

Claudia L Kleinman

Claudia L Kleinman

17

0 references

Martin Teichmann

Martin Teichmann

14

0 references

Ian Willis

Ian M Willis

16

0 references

Geneviève Bernard

13

Geneviève Bernard

1 reference

28 July 2017

15

Benoit Coulombe

1 reference

28 July 2017

7

Christian Poitras

1 reference

28 July 2017

6

1 reference

28 July 2017

4

Diane Forget

1 reference

28 July 2017

8

Nicolas Sgarioto

1 reference

28 July 2017

Karine Choquet

1

1 reference

28 July 2017

Sharon Yang

2

1 reference

28 July 2017

Robyn D Moir

3

1 reference

28 July 2017

Marie-Josée Dicaire

9

1 reference

28 July 2017

Forough Noohi

10

1 reference

28 July 2017

Timothy E Kennedy

11

1 reference

28 July 2017

Joseph Rochford

12

1 reference

28 July 2017

language of work or name

1 reference

13 April 2017

1 reference

28 July 2017

1 reference

28 July 2017

10

1 reference

28 July 2017

13

1 reference

28 July 2017

1

1 reference

https://scigraph.springernature.com/pub.10.1186/s13041-017-0294-y

28 July 2017

0 references

cites work

tRNA biology in the omics era: Stress signalling dynamics and cancer progression

1 reference

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Heterogeneity in oligodendroglia: Is it relevant to mouse models and human disease?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

RNA Polymerase III Advances: Structural and tRNA Functional Views

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Diffuse hypomyelination is not obligate for POLR3-related disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Effect of genetic background on the dystrophic phenotype in mdx mice.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Recessive Mutations in POLR3B Encoding RNA Polymerase III Subunit Causing Diffuse Hypomyelination in Patients with 4H Leukodystrophy with Polymicrogyria and Cataracts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Loss of the RNA polymerase III repressor MAF1 confers obesity resistance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

A dual program for translation regulation in cellular proliferation and differentiation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

RNA function. Ribosome stalling induced by mutation of a CNS-specific tRNA causes neurodegeneration.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Teaching neuroimages: hypomyelinating leukodystrophy with hypodontia due to POLR3B: look into a leukodystrophy's mouth

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Discovery of cell compartment specific protein-protein interactions using affinity purification combined with tandem mass spectrometry

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

RNA polymerase III drives alternative splicing of the potassium channel-interacting protein contributing to brain complexity and neurodegeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Transcription by RNA polymerase III: more complex than we thought

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Assessment of motor balance and coordination in mice using the balance beam

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

17A, a novel non-coding RNA, regulates GABA B alternative splicing and signaling in response to inflammatory stimuli and in Alzheimer disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Digital genome-wide ncRNA expression, including SnoRNAs, across 11 human tissues using polyA-neutral amplification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

An Alu-like RNA promotes cell differentiation and reduces malignancy of human neuroblastoma cells.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Oligodendrocyte development and the onset of myelination in the human fetal brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Mutation of RNA Pol III subunit rpc2/polr3b Leads to Deficiency of Subunit Rpc11 and disrupts zebrafish digestive development.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

The expanding RNA polymerase III transcriptome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Adopting the good reFLEXes when generating conditional alterations in the mouse genome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

New small nuclear RNA gene-like transcriptional units as sources of regulatory transcripts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Tissue-specific differences in human transfer RNA expression

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

"Skittish" Abca2 knockout mice display tremor, hyperactivity, and abnormal myelin ultrastructure in the central nervous system

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Vanishing white matter disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Neuronal untranslated BC1 RNA: targeted gene elimination in mice.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Maf1 is an essential mediator of diverse signals that repress RNA polymerase III transcription

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Mutations in the alpha-amanitin conserved domain of the largest subunit of yeast RNA polymerase III affect pausing, RNA cleavage and transcriptional transitions.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

A universally conserved region of the largest subunit participates in the active site of RNA polymerase III.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

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

28 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Mutations in RARS cause hypomyelination

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

More than hypomyelination in Pol-III disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

mTORC1 directly phosphorylates and regulates human MAF1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Down-regulation of 21A Alu RNA as a tool to boost proliferation maintaining the tissue regeneration potential of progenitor cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Early-onset Purkinje cell dysfunction underlies cerebellar ataxia in peroxisomal multifunctional protein-2 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

C57BL/6J congenic Prp-TDP43A315T mice develop progressive neurodegeneration in the myenteric plexus of the colon without exhibiting key features of ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

Dual role of the C34 subunit of RNA polymerase III in transcription initiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13041-017-0294-Y

A novel snRNA-like transcript affects amyloidogenesis and cell cycle progression through perturbation of Fe65L1 (APBB2) alternative splicing.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

31 October 2018

White matter matters.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5391615

Motor coordination and balance in rodents

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28407788

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13041-017-0294-Y

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference