(Q38816704)

1 July 2018

title

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome (English)

1 reference

1 July 2018

Era like 12S mitochondrial rRNA chaperone 1

main subject

molecular chaperones

0 references

1 reference

ribosomal small subunit assembly

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

Sergio Guerrero-Castillo

3

1 reference

1 July 2018

Johannes N Spelbrink

11

1 reference

1 July 2018

author name string

Iliana A Chatzispyrou

1

1 reference

1 July 2018

Marielle Alders

2

1 reference

1 July 2018

Ruben Zapata Perez

4

1 reference

1 July 2018

Martin A Haagmans

5

1 reference

1 July 2018

Janet Koster

7

1 reference

1 July 2018

Rob Ofman

8

1 reference

1 July 2018

Frank Baas

9

1 reference

1 July 2018

Hans R Waterham

10

1 reference

1 July 2018

Marcel M Mannens

13

1 reference

1 July 2018

Riekelt H Houtkooper

14

1 reference

1 July 2018

Astrid S Plomp

15

1 reference

1 July 2018

publication date

1 July 2017

1 reference

1 July 2018

published in

Human Molecular Genetics

1 reference

1 July 2018

volume

26

1 reference

1 July 2018

issue

13

1 reference

1 July 2018

page(s)

2541-2550

1 reference

1 July 2018

Creative Commons Attribution 4.0 International

copyright license

start time

26 April 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5965403/fullTextXML

inferred from PubMed Central ID database lookup

cites work

CLPP coordinates mitoribosomal assembly through the regulation of ERAL1 levels.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Evolution and structural organization of the mitochondrial contact site (MICOS) complex and the mitochondrial intermembrane space bridging (MIB) complex.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Coenzyme Q-dependent mitochondrial respiratory chain activity in granulosa cells is reduced with aging.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

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3 July 2018

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Mitonuclear protein imbalance as a conserved longevity mechanism

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

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

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Maternal diet-induced obesity alters mitochondrial activity and redox status in mouse oocytes and zygotes

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Structure of ERA in complex with the 3' end of 16S rRNA: Implications for ribosome biogenesis

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

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

3 July 2018

1 reference

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Relationship between mitochondrial electron transport chain dysfunction, development, and life extension in Caenorhabditis elegans

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

3 July 2018

1 reference

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Developmental effects of sublethal mitochondrial injury in mouse oocytes.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Molecular pathogenetic mechanism of maternally inherited deafness

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

A systematic RNAi screen identifies a critical role for mitochondria in C. elegans longevity

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

On the role of RNA amplification in dsRNA-triggered gene silencing

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Effectiveness of specific RNA-mediated interference through ingested double-stranded RNA in Caenorhabditis elegans

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Neurologic anomalies of Perrault syndrome

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

The genetics of Caenorhabditis elegans

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

The Perrault syndrome: clinical report and review

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Complexome profiling identifies TMEM126B as a component of the mitochondrial complex I assembly complex.

3 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Rates of behavior and aging specified by mitochondrial function during development

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5965403

Perrault syndrome: Evidence for progressive nervous system involvement

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDX152

[Two cases of Turner syndrome with deaf-mutism in two sisters.]

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28449065

12 December 2020

inferred from PubMed ID database lookup

Mitochondrial deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28449065

12 December 2020

inferred from PubMed ID database lookup

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28449065

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDX152

1 reference

1 July 2018

PMCID

5965403

1 reference

1 July 2018

PubMed ID

28449065

1 reference

1 July 2018