About: Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit     Goto   Sponge   NotDistinct   Permalink

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Description
  • Mutation in ATP5E gene has been found to cause isolated deficiency of ATP synthase resulting in a novel type of human mitochondrial disease with peripheral neuropathy. Mutated subunit epsilon does not influence biochemical function of ATP synthase complex but inhibits its biogenesis and assembly. This is the first case of mitochondrial disease due to mutation in nuclear encoded subunit of ATP synthase
  • Mutation in ATP5E gene has been found to cause isolated deficiency of ATP synthase resulting in a novel type of human mitochondrial disease with peripheral neuropathy. Mutated subunit epsilon does not influence biochemical function of ATP synthase complex but inhibits its biogenesis and assembly. This is the first case of mitochondrial disease due to mutation in nuclear encoded subunit of ATP synthase (en)
Title
  • Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit
  • Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit (en)
skos:prefLabel
  • Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit
  • Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit (en)
skos:notation
  • RIV/67985823:_____/10:00355559!RIV11-MSM-67985823
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • P(1M0520), P(NS9759), Z(AV0Z50110509)
http://linked.open...iv/cisloPeriodika
  • 17
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 271598
http://linked.open...ai/riv/idVysledku
  • RIV/67985823:_____/10:00355559
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • ATP-synthase; ATP5E; disease (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [1FCA5B5485FF]
http://linked.open...i/riv/nazevZdroje
  • Human Molecular 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
  • 19
http://linked.open...iv/tvurceVysledku
  • Houštěk, Josef
  • Havlíčková, Vendula
  • Ješina, Pavel
  • Kaplanová, Vilma
  • Nůsková, Hana
  • Pecinová, Alena
  • Koch, J.
  • Sperl, W.
  • Magler, I.
  • Mayr, J. A.
  • Zimmermann, F.
http://linked.open...ain/vavai/riv/wos
  • 280704800012
http://linked.open...n/vavai/riv/zamer
issn
  • 0964-6906
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