Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Autor: Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A. Thompson, Mercedes Pardo, Lu Yu, Joy W. Norris, Yunhui Peng, Karen W. Gripp, Kirk A. Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid M. Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol-Hee Kim, Erica E. Davis, Charles E. Schwartz

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-17 (2020)

Armfield X-linked disability (XLID) disorder has previously been linked to a locus in Xq28. Here, the authors report rare missense variants in FAM50A at Xq28, show that FAM50A interacts with the spliceosome, and that mis-splicing is enriched in knock

Externí odkaz: https://doaj.org/article/63052a3b677a4732a00742387ae8a8ff

Anti-tumor effect of sulfasalazine in neuroblastoma

Autor: André S. Bachmann, Marie R. Mooney, Dirk Geerts, Eric J. Kort

Publikováno v: Biochemical Pharmacology, 162, 237-249. Elsevier Inc.
Biochemical pharmacology, 162, 237-249. Elsevier Inc.
Mooney, M R, Geerts, D, Kort, E J & Bachmann, A S 2019, ' Anti-tumor effect of sulfasalazine in neuroblastoma ', Biochemical Pharmacology, vol. 162, pp. 237-249 . https://doi.org/10.1016/j.bcp.2019.01.007

Neuroblastoma (NB) is a tumor arising from the sympathetic nervous system during infancy and early childhood. High-risk patients who relapse often fail to respond to further therapy, which results in 5-year survival rate for this patient group below

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b553d9eb3e0610b37a1564c14d12ca0b
https://doi.org/10.1016/j.bcp.2019.01.007

Analysis of Single Nucleotide Variants in CRISPR-Cas9 Edited Zebrafish Exomes Shows No Evidence of Off-Target Inflation

Autor: Erica E. Davis, Marie R. Mooney, Nicholas Katsanis

Publikováno v: Frontiers in Genetics, Vol 10 (2019)
Frontiers in Genetics

Therapeutic applications of CRISPR-Cas9 gene editing have spurred innovation in Cas9 enzyme engineering and single guide RNA (sgRNA) design algorithms to minimize potential off-target events. While recent work in rodents outlines favorable conditions

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7ba09df237bd76f108b03195de807ac
https://doi.org/10.3389/fgene.2019.00949

Synergistic drug combination GC7/DFMO suppresses hypusine/spermidine-dependent eIF5A activation and induces apoptotic cell death in neuroblastoma

Autor: Chad R. Schultz, André S. Bachmann, Raid El-Khawaja, Jan Koster, Marie R. Mooney, Dirk Geerts

Publikováno v: Schultz, C R, Geerts, D, Mooney, M, El-Khawaja, R, Koster, J & Bachmann, A S 2018, ' Synergistic drug combination GC7/DFMO suppresses hypusine/spermidine-dependent eIF5A activation and induces apoptotic cell death in neuroblastoma ', The Biochemical journal, vol. 475, no. 2, pp. 531-545 . https://doi.org/10.1042/BCJ20170597
The Biochemical journal, 475(2), 531-545. Portland Press Ltd.
Biochemical journal, 475(2), 531-545. Portland Press Ltd.

The eukaryotic initiation factor 5A (eIF5A), which contributes to several crucial processes during protein translation, is the only protein that requires activation by a unique post-translational hypusine modification. eIF5A hypusination controls cel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05a992e2072125fad5fcadd561422e2
https://pubmed.ncbi.nlm.nih.gov/29295892

Abstract B15: Pediatric glioblastoma cell lines maintain response to developmental growth factors

Autor: Marie R. Mooney

Publikováno v: Cancer Research. 74:B15-B15

Glioblastoma (GBM) is a highly invasive brain tumor arising from an astrocytic cell lineage. In the United States, nearly 500 children each year develop GBMs. Pediatric GBM has a different mutational, methylation, and gene expression spectra than adu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c5f5bab18b96050566f53ef0723f5c7
https://doi.org/10.1158/1538-7445.pedcan-b15