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

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spinal muscular atrophy

1 reference

pontocerebellar hypoplasia, type 1C

inferred from title

cerebellar hypoplasia

1 reference

1 reference

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9

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19 October 2017

23

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19 October 2017

24

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19 October 2017

Helen Griffin

19

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Rita Horvath

Rita Horvath

27

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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

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19 October 2017

Daniel Birchall

11

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19 October 2017

Agota Princzinger

12

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19 October 2017

Yuval Cinnamon

13

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19 October 2017

Susanne Lützkendorf

14

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19 October 2017

Henriett Piko

15

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19 October 2017

Laura Florez

17

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19 October 2017

language of work or name

English

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publication date

3 July 2014

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19 October 2017

Nature Communications

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19 October 2017

5

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19 October 2017

1

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page(s)

4287

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Creative Commons Attribution 4.0 International

19 October 2017

start time

3 July 2014

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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14 July 2018

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14 July 2018

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14 July 2018

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

14 July 2018

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14 July 2018

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

14 July 2018

1 reference

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Systematic approaches to central nervous system myelin.

14 July 2018

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

14 July 2018

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RNA processing in human mitochondria

14 July 2018

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Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia

14 July 2018

1 reference

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14 July 2018

1 reference

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Subcellular localization of RNA degrading proteins and protein complexes in prokaryotes

14 July 2018

1 reference

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

14 July 2018

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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

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Dindel: accurate indel calls from short-read data

14 July 2018

1 reference

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Quantitative analysis of processive RNA degradation by the archaeal RNA exosome

14 July 2018

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

14 July 2018

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The Sequence Alignment/Map format and SAMtools

14 July 2018

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

14 July 2018

1 reference

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HomozygosityMapper--an interactive approach to homozygosity mapping

14 July 2018

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Fast and accurate short read alignment with Burrows-Wheeler transform

14 July 2018

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

14 July 2018

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Zebrafish myelination: a transparent model for remyelination?

14 July 2018

1 reference

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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

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

14 July 2018

1 reference

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

14 July 2018

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A nuclear surveillance pathway for mRNAs with defective polyadenylation.

14 July 2018

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A newly discovered founder population: the Roma/Gypsies

14 July 2018

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Mutation history of the roma/gypsies

14 July 2018

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Exploration of essential gene functions via titratable promoter alleles

14 July 2018

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A protein interaction framework for human mRNA degradation

14 July 2018

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

14 July 2018

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

14 July 2018

1 reference

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

14 July 2018

1 reference

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Mechanisms and control of mRNA decapping in Saccharomyces cerevisiae

14 July 2018

1 reference

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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

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

14 July 2018

1 reference

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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

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

21 January 2018

1 reference

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

21 January 2018

1 reference

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

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

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

21 January 2018

1 reference

In vivo analysis of mtDNA replication defects in yeast

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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