↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Träfflista för sökning "WFRF:(Massart B.) srt2:(2020)"

Search: WFRF:(Massart B.) > (2020)

Result 1-2 of 2

Sort/group result

Sort by: Hits per page:

Enumeration	Reference	Cover	Find
1.	Kuhn, JH, et al. (author) 2020 taxonomic update for phylum Negarnaviricota (Riboviria: Orthornavirae), including the large orders Bunyavirales and Mononegavirales 2020 In: Archives of virology. - : Springer Science and Business Media LLC. - 1432-8798 .- 0304-8608. ; 165:12, s. 3023-3072 Journal article (other academic/artistic)
2.	Barbuti, P, et al. (author) Using High-Content Screening to Generate Single-Cell Gene-Corrected Patient-Derived iPS Clones Reveals Excess Alpha-Synuclein with Familial Parkinson's Disease Point Mutation A30P 2020 In: Cells. - : MDPI AG. - 2073-4409. ; 9:9 Journal article (peer-reviewed)abstract The generation of isogenic induced pluripotent stem cell (iPSC) lines using CRISPR-Cas9 technology is a technically challenging, time-consuming process with variable efficiency. Here we use fluorescence-activated cell sorting (FACS) to sort biallelic CRISPR-Cas9 edited single-cell iPSC clones into high-throughput 96-well microtiter plates. We used high-content screening (HCS) technology and generated an in-house developed algorithm to select the correctly edited isogenic clones for continued expansion and validation. In our model we have gene-corrected the iPSCs of a Parkinson’s disease (PD) patient carrying the autosomal dominantly inherited heterozygous c.88G>C mutation in the SNCA gene, which leads to the pathogenic p.A30P form of the alpha-synuclein protein. Undertaking a PCR restriction-digest mediated clonal selection strategy prior to sequencing, we were able to post-sort validate each isogenic clone using a quadruple screening strategy prior to generating footprint-free isogenic iPSC lines, retaining a normal molecular karyotype, pluripotency and three germ-layer differentiation potential. Directed differentiation into midbrain dopaminergic neurons revealed that SNCA expression is reduced in the gene-corrected clones, which was validated by a reduction at the alpha-synuclein protein level. The generation of single-cell isogenic clones facilitates new insights in the role of alpha-synuclein in PD and furthermore is applicable across patient-derived disease models.

Skapa referenser, mejla, bekava och länka

Permalink

Result 1-2 of 2

Refine your search

Type of publication: journal article (2)

Type of content: other academic/artistic (1); peer-reviewed (1)

Author/Editor: Arias, J (1); Liu, Y. (1); Wang, H. (1); Hoffmann, B. (1); Yang, X. (1); Hewson, R. (1); show more...; Hassan, M (1); Zhang, T (1); Mirazimi, A (1); Adkins, S (1); Alioto, D (1); Alkhovsky, SV (1); Ballinger, MJ (1); Bente, DA (1); Beer, M (1); Bergeron, E (1); Briese, T (1); Buchmeier, MJ (1); Calisher, CH (1); Charrel, RN (1); Clegg, JCS (1); Di Serio, F (1); Digiaro, M (1); Drebot, MA (1); Ebihara, H (1); Elbeaino, T (1); Ergunay, K (1); Garrison, AR (1); Gao, GF (1); Gonzalez, JPJ (1); Groschup, MH (1); Hall, RA (1); Hepojoki, J (1); Hughes, HR (1); Junglen, S (1); Klempa, B (1); Klingstrom, J (1); Laenen, L (1); Lambert, AJ (1); Lukashevich, IS (1); Maes, P (1); de Souza, WM (1); Marklewitz, M (1); Martelli, GP (1); Mielke-Ehret, N (1); Minutolo, M (1); Muhlbach, HP (1); Naidu, R (1); Navarro, B (1); Nunes, MRT (1); show less...

University: Karolinska Institutet (2)

Language: English (2)

Year: 2020 (2)Undo refine

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

Copyright © LIBRIS - National Library Systems
LIBRIS.kb.se

pil uppåt

Close

Copy and save the link in order to return to this view