This HTML5 document contains 72 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
dctermshttp://purl.org/dc/terms/
n19http://linked.opendata.cz/resource/domain/vavai/riv/tvurce/
n17http://linked.opendata.cz/resource/domain/vavai/projekt/
n12http://linked.opendata.cz/resource/domain/vavai/subjekt/
n11http://linked.opendata.cz/ontology/domain/vavai/
shttp://schema.org/
skoshttp://www.w3.org/2004/02/skos/core#
rdfshttp://www.w3.org/2000/01/rdf-schema#
n3http://linked.opendata.cz/ontology/domain/vavai/riv/
n15http://linked.opendata.cz/resource/domain/vavai/vysledek/RIV%2F00064203%3A_____%2F12%3A8104%21RIV13-MZ0-00064203/
n2http://linked.opendata.cz/resource/domain/vavai/vysledek/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
n10http://linked.opendata.cz/ontology/domain/vavai/riv/klicoveSlovo/
n16http://linked.opendata.cz/ontology/domain/vavai/riv/duvernostUdaju/
xsdhhttp://www.w3.org/2001/XMLSchema#
n7http://linked.opendata.cz/ontology/domain/vavai/riv/jazykVysledku/
n5http://linked.opendata.cz/ontology/domain/vavai/riv/aktivita/
n18http://linked.opendata.cz/ontology/domain/vavai/riv/obor/
n8http://linked.opendata.cz/ontology/domain/vavai/riv/druhVysledku/
n13http://reference.data.gov.uk/id/gregorian-year/

Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F12%3A8104%21RIV13-MZ0-00064203
rdf:type
skos:Concept n11:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1038/ng.2254
dcterms:description
RNA exosomes are multi-subunit complexes conserved throughout evolution(1) and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability(2). By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596)(3-6). We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1. Morpholino knockdown of exosc3 in zebrafish embryos caused embryonic maldevelopment, resulting in small brain size and poor motility, reminiscent of human clinical features, and these defects were largely rescued by co-injection with wild-type but not mutant exosc3 mRNA. These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration. RNA exosomes are multi-subunit complexes conserved throughout evolution(1) and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability(2). By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596)(3-6). We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1. Morpholino knockdown of exosc3 in zebrafish embryos caused embryonic maldevelopment, resulting in small brain size and poor motility, reminiscent of human clinical features, and these defects were largely rescued by co-injection with wild-type but not mutant exosc3 mRNA. These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration.
dcterms:title
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
skos:prefLabel
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
skos:notation
RIV/00064203:_____/12:8104!RIV13-MZ0-00064203
n11:predkladatel
n12:ico%3A00064203
n3:aktivita
n5:I n5:P
n3:aktivity
I, P(NS10552)
n3:cisloPeriodika
6
n3:dodaniDat
n13:2013
n3:domaciTvurceVysledku
n19:8510210
n3:druhVysledku
n8:J
n3:duvernostUdaju
n16:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
152550
n3:idVysledku
RIV/00064203:_____/12:8104
n3:jazykVysledku
n7:eng
n3:klicovaSlova
amyotrophic-lateral-sclerosis; dna-sequencing data; horn cell disease; cerebellar hypoplasia; hexanucleotide repeat; muscular-atrophy; human genome; type-1; onset; involvement
n3:klicoveSlovo
n10:cerebellar%20hypoplasia n10:involvement n10:muscular-atrophy n10:dna-sequencing%20data n10:horn%20cell%20disease n10:human%20genome n10:type-1 n10:amyotrophic-lateral-sclerosis n10:onset n10:hexanucleotide%20repeat
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[ED823E44756A]
n3:nazevZdroje
Nature Genetics
n3:obor
n18:EB
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
26
n3:projekt
n17:NS10552
n3:rokUplatneniVysledku
n13:2012
n3:svazekPeriodika
44
n3:tvurceVysledku
Seeman, Pavel Sanefuji, M. Jen, JC Chitayat, D. Salamon, N. Shieh, PB Graul-Neumann, L. Castro-Gago, M. Sobrido, M. J. Nelson, SF Zerres, K. Kim, RC Kornberg, AJ Salman, MS von Moers, A. Chen, ZG Mamsa, H. Rudnik-Schoneborn, S. Senderek, J. Ryan, MM Wan, JJ Vinters, HV Yourshaw, M. Leong, D. W. Menezes, MP Hong, J. E
n3:wos
000304551100020
s:issn
1061-4036
s:numberOfPages
5