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

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985904%3A_____%2F11%3A00372171" target="_blank" >RIV/67985904:_____/11:00372171 - isvavai.cz</a>

Result on the web

<a href="http://dx.doi.org/10.1038/ncomms1453" target="_blank" >http://dx.doi.org/10.1038/ncomms1453</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/ncomms1453" target="_blank" >10.1038/ncomms1453</a>

Result language

angličtina

Original language name

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

Original language 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.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2011

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Nature Communications

ISSN

2041-1723

e-ISSN

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Volume of the periodical

2

Issue of the periodical within the volume

440

Country of publishing house

GB - UNITED KINGDOM

Number of pages

10

Pages from-to

1-1

UT code for WoS article

000294806500033

EID of the result in the Scopus database

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