About: Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus

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About: Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	A major barrier to research on Parkinson's disease is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells from patients and differentiate them into neurons affected by disease. Triplication of SNCA, encoding alpha-synuclein, causes a fully penetrant, aggressive form of Parkinson's disease with dementia. alpha-Synuclein dysfunction is the critical pathogenic event in Parkinson's disease, multiple system atrophy and dementia with Lewy bodies. Here we produce multiple induced pluripotent stem cell lines from an SNCA triplication patient and an unaffected first-degree relative. When these cells are differentiated into midbrain dopaminergic neurons, those from the patient produce double the amount of alpha-synuclein protein as neurons from the unaffected relative, precisely recapitulating the cause of Parkinson's disease in these individuals. A major barrier to research on Parkinson's disease is inaccessibility of diseased tissue for study. One solution is to derive induced pluripotent stem cells from patients and differentiate them into neurons affected by disease. Triplication of SNCA, encoding alpha-synuclein, causes a fully penetrant, aggressive form of Parkinson's disease with dementia. alpha-Synuclein dysfunction is the critical pathogenic event in Parkinson's disease, multiple system atrophy and dementia with Lewy bodies. Here we produce multiple induced pluripotent stem cell lines from an SNCA triplication patient and an unaffected first-degree relative. When these cells are differentiated into midbrain dopaminergic neurons, those from the patient produce double the amount of alpha-synuclein protein as neurons from the unaffected relative, precisely recapitulating the cause of Parkinson's disease in these individuals. (en)
Title	Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus (en)
skos:prefLabel	Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus (en)
skos:notation	RIV/67985904:_____/11:00372171!RIV12-AV0-67985904
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(AV0Z50450515)
http://linked.open...iv/cisloPeriodika	440
http://linked.open...vai/riv/dodaniDat	2012
http://linked.open...aciTvurceVysledku	Vodička, Petr
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Ústav živočišné fyziologie a genetiky AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	219601
http://linked.open...ai/riv/idVysledku	RIV/67985904:_____/11:00372171
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	gene duplication; dementia; association (en)
http://linked.open.../riv/klicoveSlovo	gene duplication association dementia
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[FD5974A890A7]
http://linked.open...i/riv/nazevZdroje	Nature Communications
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	15 (xsd:int)
http://linked.open...UplatneniVysledku	2011
http://linked.open...v/svazekPeriodika	2
http://linked.open...iv/tvurceVysledku	Vodička, Petr Hardy, J. Burdon, T. Cavaleri, F. Devine, M. J. Drummond, N. J. Gwinn, K. Houlden, H. Kunath, T. Lewis, P. A. Nagano, M. Ryten, M. Schapira, A. H. Taanman, J. W. Thomson, A. J.
http://linked.open...ain/vavai/riv/wos	000294806500033
http://linked.open...n/vavai/riv/zamer	Genetic, functional and developmental potential of animal cells, tissues and organisms: their use in medicine, ecology and agriculture
issn	2041-1723
number of pages	10 (xsd:int)
http://bibframe.org/vocab/doi	10.1038/ncomms1453

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