(Q35204958)

7 August 2017

title

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

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7 August 2017

19

Bernard Brais

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Giovanni Carosso

Giovanni Carosso

6

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Asako Takanohashi

Asako Takanohashi

5

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Martin Teichmann

Martin Teichmann

15

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Valerie Delague

Valérie Delague

10

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Adeline Vanderver

Adeline Vanderver

18

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Geneviève Bernard

1

Geneviève Bernard

1 reference

7 August 2017

Eliane Chouery

2

1 reference

7 August 2017

Maria Lisa Putorti

3

1 reference

7 August 2017

Martine Tétreault

4

1 reference

7 August 2017

Isabelle Clément

7

1 reference

7 August 2017

Odile Boespflug-Tanguy

8

1 reference

7 August 2017

Diana Rodriguez

9

1 reference

7 August 2017

Joelle Abou Ghoch

11

1 reference

7 August 2017

Nadine Jalkh

12

1 reference

7 August 2017

Imen Dorboz

13

1 reference

7 August 2017

Sebastien Fribourg

14

1 reference

7 August 2017

André Megarbane

16

1 reference

7 August 2017

Raphael Schiffmann

17

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7 August 2017

language of work or name

English

0 references

publication date

1 September 2011

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

89

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7 August 2017

issue

3

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7 August 2017

page(s)

415-423

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Transcription by RNA polymerase III: more complex than we thought

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Two isoforms of human RNA polymerase III with specific functions in cell growth and transformation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Structure-function analysis of RNA polymerases I and III.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Invited article: an MRI-based approach to the diagnosis of white matter disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Structure of eukaryotic RNA polymerases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

The expanding RNA polymerase III transcriptome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Insights into transcription initiation and termination from the electron microscopy structure of yeast RNA polymerase III.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Tissue-specific differences in human transfer RNA expression

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Structures of complete RNA polymerase II and its subcomplex, Rpb4/7.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

The latest on leukodystrophies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

The largest subunit of human RNA polymerase III is closely related to the largest subunit of yeast and trypanosome RNA polymerase III

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Effect of mutations in a zinc-binding domain of yeast RNA polymerase C (III) on enzyme function and subunit association

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3169829

Leukodystrophy associated with oligodontia in a large inbred family: fortuitous association or new entity?

15 November 2018

1 reference

12 December 2020

Structural biology of RNA polymerase III: subcomplex C17/25 X-ray structure and 11 subunit enzyme model

1 reference

12 December 2020

[Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy]

1 reference

12 December 2020

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

1 reference

12 December 2020

10.1016/J.AJHG.2011.07.014

Identifiers

DOI

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7 August 2017

1 reference

7 August 2017

1 reference