Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Justin M Wolter"'
Autor:
Michael J Lafferty, Nil Aygün, Niyanta K Patel, Oleh Krupa, Dan Liang, Justin M Wolter, Daniel H Geschwind, Luis de la Torre-Ubieta, Jason L Stein
Publikováno v:
eLife, Vol 12 (2023)
Expression quantitative trait loci (eQTL) data have proven important for linking non-coding loci to protein-coding genes. But eQTL studies rarely measure microRNAs (miRNAs), small non-coding RNAs known to play a role in human brain development and ne
Externí odkaz:
https://doaj.org/article/879e6be524424938b8ce9bf78a43c091
Autor:
Nana Matoba, Brandon D Le, Jordan M Valone, Justin M Wolter, Jessica Mory, Dan Liang, Nil Aygün, K Alaine Broadaway, Marielle L Bond, Karen L Mohlke, Mark J Zylka, Michael I Love, Jason L Stein
Publikováno v:
bioRxiv
Gene regulatory effects in bulk-post mortem brain tissues are undetected at many non-coding brain trait-associated loci. We hypothesized that context-specific genetic variant function during stimulation of a developmental signaling pathway would expl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608adc1109dea2fd41f0b7999834d954
https://europepmc.org/articles/PMC9934631/
https://europepmc.org/articles/PMC9934631/
Autor:
Michael J. Lafferty, Nil Aygün, Niyanta K. Patel, Oleh Krupa, Dan Liang, Justin M. Wolter, Daniel H. Geschwind, Luis de la Torre-Ubieta, Jason L. Stein
Expression quantitative trait loci (eQTL) data have proven important for linking non-coding loci to protein-coding genes. But eQTL studies rarely measure microRNAs (miRNAs), small non-coding RNAs known to play a role in human brain development and ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adc6f89911037a7eb5b30d31d3d7629c
Autor:
Michael J Lafferty, Nil Aygün, Niyanta K Patel, Oleh Krupa, Dan Liang, Justin M Wolter, Daniel H Geschwind, Luis de la Torre-Ubieta, Jason L Stein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4184c4b587f8de58c0d51dcec53eafbe
https://doi.org/10.7554/elife.79488.sa2
https://doi.org/10.7554/elife.79488.sa2
Autor:
Michael I. Love, Justin M. Wolter, Marianna Yusupova, Oleh Krupa, Michael J. Lafferty, Angela L. Elwell, Dan Liang, Kenan P. Courtney, Melanie E. Garrett, Felix A Kyere, Jason L. Stein, Nil Aygün, Daniel H. Geschwind, Luis de la Torre-Ubieta, Kerry E. Cheek, Gregory E. Crawford, Allison E. Ashley-Koch
Publikováno v:
Nature neuroscience
Common genetic risk for neuropsychiatric disorders is enriched in regulatory elements active during cortical neurogenesis. However, it remains poorly understood as to how these variants influence gene regulation. To model the functional impact of com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7dc62c2d11c8f36c822043c71488ca5
https://doi.org/10.1038/s41593-021-00858-w
https://doi.org/10.1038/s41593-021-00858-w
Autor:
Justin M. Wolter, Brandon D. Le, Nana Matoba, Michael J. Lafferty, Nil Aygün, Dan Liang, Kenan Courtney, Juan Song, Joseph Piven, Mark J. Zylka, Jason L. Stein
Publikováno v:
Biol Psychiatry
BACKGROUND: Bipolar disorder is a highly heritable neuropsychiatric condition affecting more than 1% of the human population. Lithium salts are commonly prescribed as a mood stabilizer for individuals with bipolar disorder. Lithium is clinically effe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d551fbe6de2e464d9255c99c42caf553
https://pubmed.ncbi.nlm.nih.gov/36307327
https://pubmed.ncbi.nlm.nih.gov/36307327
Autor:
Lisa E.L. Romano, Wen Yih Aw, Kathryn M. Hixson, Tatiana V. Novoselova, Tammy M. Havener, Stefanie Howell, Bonnie Taylor-Blake, Charlotte L. Hall, Lei Xing, Josh Beri, Suran Nethisinghe, Laura Perna, Abubakar Hatimy, Ginevra Chioccioli Altadonna, Lee M. Graves, Laura E. Herring, Anthony J. Hickey, Konstantinos Thalassinos, J. Paul Chapple, Justin M. Wolter
Publikováno v:
Cell Reports. 41:111580
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filame
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1efacf47940593ba8d8b563e29d0f497
https://doi.org/10.1016/j.celrep.2022.111580
https://doi.org/10.1016/j.celrep.2022.111580
Autor:
Anthony J. Hickey, Suran Nethisinghe, Abubakar Hatimy, Lei Xing, Charlotte L. Hall, Laura Perna, Wen Yih Aw, Stefanie D. Howell, Laura E. Herring, Tammy M. Havener, Josh Beri, Lee M. Graves, Ginevra Chioccioli Altadonna, Konstantinos Thalassinos, Justin M. Wolter, Kathryn M. Hixson, J. Paul Chapple, Lisa E.L. Romano, Tatiana V. Novoselova
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in SACS, which manifest as a childhood-onset cerebellar ataxia. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament (IF) disorga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ddf55dbd3a1a1167cccb374e46fa9a4
https://doi.org/10.1101/2021.08.20.456807
https://doi.org/10.1101/2021.08.20.456807
Numerous autism spectrum disorder (ASD) risk genes are associated with Wnt signaling, suggesting that brain development may be especially sensitive to genetic perturbation of this pathway. Additionally, valproic acid, which modulates Wnt signaling, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54165fe33742ba62627f526cd99351f6
https://doi.org/10.1101/2021.02.15.430319
https://doi.org/10.1101/2021.02.15.430319
Autor:
Matthew P. Walker, Justin M. Wolter, Michael B. Major, Michael J. Emanuele, Mark J. Zylka, Jason J. Yi, Smita R. Paranjape, Rajarshi Choudhury, Giulia Fragola
Publikováno v:
Journal of Biological Chemistry. 292:12503-12515
UBE3A is a HECT domain E3 ubiquitin ligase whose dysfunction is linked to autism, Angelman syndrome, and cancer. Recently, we characterized a de novo autism-linked UBE3A mutant (UBE3AT485A) that disrupts phosphorylation control of UBE3A activity. Thr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::859717dd2ceacf9de70bc065153abe59
https://doi.org/10.1074/jbc.m117.788448
https://doi.org/10.1074/jbc.m117.788448