(Q34228464)

31 July 2017

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

1 reference

hypomyelinating leukoencephalopathy

31 July 2017

1 reference

Yoshinori Tsurusaki

11

0 references

Hirotomo Saitsu

object named as

Hirotomo Saitsu

1

0 references

author name string

Hitoshi Osaka

2

1 reference

31 July 2017

Masayuki Sasaki

3

1 reference

31 July 2017

Jun-Ichi Takanashi

4

1 reference

31 July 2017

Keisuke Hamada

5

1 reference

31 July 2017

Akio Yamashita

6

1 reference

31 July 2017

Hidehiro Shibayama

7

1 reference

31 July 2017

Masaaki Shiina

8

1 reference

31 July 2017

Yukiko Kondo

9

1 reference

31 July 2017

Kiyomi Nishiyama

10

1 reference

31 July 2017

Noriko Miyake

12

1 reference

31 July 2017

Hiroshi Doi

13

1 reference

31 July 2017

Kazuhiro Ogata

14

1 reference

31 July 2017

Ken Inoue

15

1 reference

31 July 2017

Naomichi Matsumoto

16

1 reference

31 July 2017

language of work or name

English

0 references

publication date

27 October 2011

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

89

1 reference

31 July 2017

5

1 reference

31 July 2017

644-651

1 reference

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

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Human RNA polymerase III transcriptomes and relationships to Pol II promoter chromatin and enhancer-binding factors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Structure-function analysis of RNA polymerases I and III.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Structural Basis of Transcription: Backtracked RNA Polymerase II at 3.4 Angstrom Resolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Mapping short DNA sequencing reads and calling variants using mapping quality scores

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

The expanding RNA polymerase III transcriptome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Structural basis of transcription: an RNA polymerase II elongation complex at 3.3 A resolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Structural basis of transcription: RNA polymerase II at 2.8 angstrom resolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3213392

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

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22036171

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22036171

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.10.003

1 reference

31 July 2017

1 reference

31 July 2017

1 reference