About: Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration     Goto   Sponge   NotDistinct   Permalink

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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. (en)
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 (en)
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 (en)
skos:notation
  • RIV/00064203:_____/12:8104!RIV13-MZ0-00064203
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • I, P(NS10552)
http://linked.open...iv/cisloPeriodika
  • 6
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
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  • 152550
http://linked.open...ai/riv/idVysledku
  • RIV/00064203:_____/12:8104
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • amyotrophic-lateral-sclerosis; dna-sequencing data; horn cell disease; cerebellar hypoplasia; hexanucleotide repeat; muscular-atrophy; human genome; type-1; onset; involvement (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • US - Spojené státy americké
http://linked.open...ontrolniKodProRIV
  • [ED823E44756A]
http://linked.open...i/riv/nazevZdroje
  • Nature Genetics
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...vavai/riv/projekt
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 44
http://linked.open...iv/tvurceVysledku
  • Seeman, Pavel
  • Chitayat, D.
  • Sobrido, M. J.
  • Vinters, HV
  • Castro-Gago, M.
  • Chen, ZG
  • Graul-Neumann, L.
  • Hong, J. E
  • Jen, JC
  • Kim, RC
  • Kornberg, AJ
  • Leong, D. W.
  • Mamsa, H.
  • Menezes, MP
  • Nelson, SF
  • Rudnik-Schoneborn, S.
  • Ryan, MM
  • Salamon, N.
  • Salman, MS
  • Sanefuji, M.
  • Senderek, J.
  • Shieh, PB
  • Wan, JJ
  • Yourshaw, M.
  • Zerres, K.
  • von Moers, A.
http://linked.open...ain/vavai/riv/wos
  • 000304551100020
issn
  • 1061-4036
number of pages
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