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Statements

Subject Item
n2:RIV%2F67985823%3A_____%2F10%3A00355559%21RIV11-MSM-67985823
rdf:type
n9:Vysledek skos:Concept
dcterms: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
dcterms: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
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
skos:notation
RIV/67985823:_____/10:00355559!RIV11-MSM-67985823
n3:aktivita
n12:P n12:Z
n3:aktivity
P(1M0520), P(NS9759), Z(AV0Z50110509)
n3:cisloPeriodika
17
n3:dodaniDat
n16:2011
n3:domaciTvurceVysledku
n4:6212735 n4:1407953 n4:7920199 n4:8943222 n4:1985213 n4:8190135
n3:druhVysledku
n14:J
n3:duvernostUdaju
n15:S
n3:entitaPredkladatele
n11:predkladatel
n3:idSjednocenehoVysledku
271598
n3:idVysledku
RIV/67985823:_____/10:00355559
n3:jazykVysledku
n6:eng
n3:klicovaSlova
ATP-synthase; ATP5E; disease
n3:klicoveSlovo
n13:disease n13:ATP-synthase n13:ATP5E
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[1FCA5B5485FF]
n3:nazevZdroje
Human Molecular Genetics
n3:obor
n18:EB
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
11
n3:projekt
n7:1M0520 n7:NS9759
n3:rokUplatneniVysledku
n16:2010
n3:svazekPeriodika
19
n3:tvurceVysledku
Nůsková, Hana Mayr, J. A. Pecinová, Alena Sperl, W. Zimmermann, F. Koch, J. Havlíčková, Vendula Houštěk, Josef Kaplanová, Vilma Magler, I. Ješina, Pavel
n3:wos
280704800012
n3:zamer
n17:AV0Z50110509
s:issn
0964-6906
s:numberOfPages
10