(Q30434640)

19 October 2017

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia (English)

1 reference

19 October 2017

0 references

spinal muscular atrophy

1 reference

pontocerebellar hypoplasia, type 1C

inferred from title

cerebellar hypoplasia

1 reference

1 reference

1 reference

9

1 reference

19 October 2017

23

1 reference

19 October 2017

24

1 reference

19 October 2017

Helen Griffin

19

0 references

Rita Horvath

Rita Horvath

27

0 references

Angela Pyle

3

Angela Pyle

1 reference

19 October 2017

Mauro Santibanez-Korev

18

Mauro Santibanez-Koref

1 reference

19 October 2017

25

Patrick F Chinnery

1 reference

19 October 2017

1

Veronika Boczonadi

1 reference

19 October 2017

Jennifer Munkley

4

1 reference

ORCID Public Data File 2021

Luba Kalaydjieva

22

Luba Kalaydjieva

1 reference

19 October 2017

2

Juliane S Müller

1 reference

19 October 2017

7

Ileana Ferrero

1 reference

19 October 2017

8

Veronika Karcagi

1 reference

19 October 2017

10

Tuomo Polvikoski

1 reference

19 October 2017

20

Markus Schuelke

1 reference

19 October 2017

21

Orly Elpeleg

1 reference

19 October 2017

26

Shimon Edvardson

1 reference

19 October 2017

16

Mojgan Reza

1 reference

19 October 2017

Talya Dor

5

1 reference

19 October 2017

Jade Quartararo

6

1 reference

19 October 2017

Daniel Birchall

11

1 reference

19 October 2017

Agota Princzinger

12

1 reference

19 October 2017

Yuval Cinnamon

13

1 reference

19 October 2017

Susanne Lützkendorf

14

1 reference

19 October 2017

Henriett Piko

15

1 reference

19 October 2017

Laura Florez

17

1 reference

19 October 2017

language of work or name

English

0 references

publication date

3 July 2014

1 reference

19 October 2017

Nature Communications

1 reference

19 October 2017

5

1 reference

19 October 2017

1

0 references

page(s)

4287

1 reference

Creative Commons Attribution 4.0 International

19 October 2017

start time

3 July 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Myelin membrane wrapping of CNS axons by PI(3,4,5)P3-dependent polarized growth at the inner tongue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Threading the barrel of the RNA exosome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

A new strategy for gene targeting and functional proteomics using the DT40 cell line

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Small nuclear RNAs and mRNAs: linking RNA processing and transport to spinal muscular atrophy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

The Sm complex is required for the processing of non-coding RNAs by the exosome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Crystal structure of an RNA-bound 11-subunit eukaryotic exosome complex

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

wANNOVAR: annotating genetic variants for personal genomes via the web.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Systematic approaches to central nervous system myelin.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

RNA processing in human mitochondria

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

The human exosome and disease.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Subcellular localization of RNA degrading proteins and protein complexes in prokaryotes

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Processive RNA decay by the exosome: merits of a quantitative Bayesian sampling approach

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Dindel: accurate indel calls from short-read data

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Quantitative analysis of processive RNA degradation by the archaeal RNA exosome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

The Sequence Alignment/Map format and SAMtools

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Kif1b is essential for mRNA localization in oligodendrocytes and development of myelinated axons

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

HomozygosityMapper--an interactive approach to homozygosity mapping

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Fast and accurate short read alignment with Burrows-Wheeler transform

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Zebrafish myelination: a transparent model for remyelination?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Rrp4 and Csl4 are needed for efficient degradation but not for polyadenylation of synthetic and natural RNA by the archaeal exosome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Myelin disorders: Causes and perspectives of Charcot-Marie-Tooth neuropathy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

A nuclear surveillance pathway for mRNAs with defective polyadenylation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

A newly discovered founder population: the Roma/Gypsies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Mutation history of the roma/gypsies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Exploration of essential gene functions via titratable promoter alleles

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

A protein interaction framework for human mRNA degradation

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

3-Methylglutaconic aciduria type I is caused by mutations in AUH

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

AU binding proteins recruit the exosome to degrade ARE-containing mRNAs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Mechanisms and control of mRNA decapping in Saccharomyces cerevisiae

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Visualization of cranial motor neurons in live transgenic zebrafish expressing green fluorescent protein under the control of the islet-1 promoter/enhancer.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Stages of embryonic development of the zebrafish

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

Premature translational termination triggers mRNA decapping

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4102769

The roles of intersubunit interactions in exosome stability

14 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

Molecular evolution of myelin basic protein, an abundant structural myelin component

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

PLP/DM20 expression and turnover in a transgenic mouse model of Pelizaeus-Merzbacher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

In vivo analysis of mtDNA replication defects in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

The olfactory placodes of the zebrafish form by convergence of cellular fields at the edge of the neural plate

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24989451

12 December 2020

inferred from PubMed ID database lookup

PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus-Merzbacher disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24989451

12 December 2020

inferred from PubMed ID database lookup

The human exosome and disease

1 reference

https://api.crossref.org/works/10.1038%2FNCOMMS5287

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NCOMMS5287

1 reference

Dimensions Publication ID

19 October 2017

0 references

0 references

1 reference

19 October 2017

PubMed publication ID

24989451

1 reference