Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Elizabeth D Buttermore"'
Autor:
Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Benjamin Zhang, Maria Sundberg, Cidi Chen, Elizabeth D. Buttermore, Nina Makhortova, Jennifer Howe, Mustafa Sahin, Stephen W. Scherer
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 638-647 (2024)
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas nucleases and human induced pluripotent stem cell (iPSC) technology can reveal deep insight into the genetic and molecular bases of human biology and disease. Undesired editing ou
Externí odkaz:
https://doaj.org/article/fce05ccaaede435b84e6e74474bfe7f5
Autor:
Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E. Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden, Jed Hubbs, Elizabeth D. Buttermore, Lee Barrett, Georg H. H. Borner, Alexandra K. Davies, Darius Ebrahimi-Fakhari, Mustafa Sahin
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Unbiased phenotypic screens in patient-relevant disease models offer the potential to detect therapeutic targets for rare diseases. In this study, we developed a high-throughput screening assay to identify molecules that correct aberrant pro
Externí odkaz:
https://doaj.org/article/b52e18bceed849439f7ec10f0de5714b
Autor:
Wardiya Afshar-Saber, Cidi Chen, Nicole A. Teaney, Kristina Kim, Ziqin Yang, Federico M. Gasparoli, Darius Ebrahimi-Fakhari, Elizabeth D. Buttermore, Ivy Pin-Fang Chen, Phillip L. Pearl, Mustafa Sahin
Publikováno v:
Stem Cell Research, Vol 77, Iss , Pp 103424- (2024)
Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) is an ultra-rare autosomal recessive neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. Here, we report the generation and characterization of human induced
Externí odkaz:
https://doaj.org/article/3f29105d885d41a69adcd8bd9288c39b
Autor:
Maria Cristina Benedetti, Tiziano D'andrea, Alessio Colantoni, Denis Silachev, Valeria de Turris, Zaira Boussadia, Valentina A. Babenko, Egor A. Volovikov, Lilia Belikova, Alexandra N. Bogomazova, Rita Pepponi, Dosh Whye, Elizabeth D. Buttermore, Gian Gaetano Tartaglia, Maria A. Lagarkova, Vladimir L. Katanaev, Ilya Musayev, Simone Martinelli, Sergio Fucile, Alessandro Rosa
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26656- (2024)
Pathogenic variants in the GNAO1 gene, encoding the alpha subunit of an inhibitory heterotrimeric guanine nucleotide-binding protein (Go) highly expressed in the mammalian brain, have been linked to encephalopathy characterized by different combinati
Externí odkaz:
https://doaj.org/article/9c89d53e3ca84cf1b006547afe2a7973
Autor:
Wardiya Afshar-Saber, Nicole A. Teaney, Kellen D. Winden, Hellen Jumo, Xutong Shi, Gabrielle McGinty, Jed Hubbs, Cidi Chen, Itay Tokatly Latzer, Federico Gasparoli, Darius Ebrahimi-Fakhari, Elizabeth D. Buttermore, Jean-Baptiste Roullet, Phillip L. Pearl, Mustafa Sahin
Publikováno v:
Neurobiology of Disease, Vol 190, Iss , Pp 106386- (2024)
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. SSADHD leads to impaired GABA metabolism and results in accumulation of GABA and γ-hydroxybutyrate
Externí odkaz:
https://doaj.org/article/6afdfd05e9854926bfb6dac05d7d20fc
Autor:
Maya Chopra, Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 32-46 (2022)
Interest in gene-based therapies for neurodevelopmental disorders is increasing exponentially, driven by the rise in recognition of underlying genetic etiology, progress in genomic technology, and recent proof of concept in several disorders. The cur
Externí odkaz:
https://doaj.org/article/b06707dc5eda41d08b9202717d7435f6
Autor:
Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-12 (2021)
Abstract Autism Spectrum Disorder (ASD) is genetically complex with ~100 copy number variants and genes involved. To try to establish more definitive genotype and phenotype correlations in ASD, we searched genome sequence data, and the literature, fo
Externí odkaz:
https://doaj.org/article/54f8fe923ab549de9877b0baef9d1c16
Autor:
Elizabeth D. Buttermore, Nickesha C. Anderson, Pin-Fang Chen, Nina R. Makhortova, Kristina H. Kim, Syed M. A. Wafa, Sean Dwyer, John M. Micozzi, Kellen D. Winden, Bo Zhang, Min-Joon Han, Robin J. Kleiman, Catherine A. Brownstein, Mustafa Sahin, Joseph Gonzalez-Heydrich
Publikováno v:
Frontiers in Psychiatry, Vol 13 (2022)
16p13.11 copy number variants (CNVs) have been associated with autism, schizophrenia, psychosis, intellectual disability, and epilepsy. The majority of 16p13.11 deletions or duplications occur within three well-defined intervals, and despite growing
Externí odkaz:
https://doaj.org/article/bedda704b0ec4e45b715988a86bb44c5
Autor:
Pin-Fang Chen, Teresa Chen, Taylor E. Forman, Amanda C. Swanson, Benjamin O'Kelly, Sean A. Dwyer, Elizabeth D. Buttermore, Robin Kleiman, Sheridan JS Carrington, Daniel J. Lavery, Lindsay C. Swanson, Heather E. Olson, Mustafa Sahin
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102276- (2021)
CDKL5 Deficiency Disorder (CDD) is a rare X-linked monogenic developmental encephalopathy that is estimated to affect 1:42,000 live births. CDD is caused by pathogenic variants in the CDKL5 gene and is observed in both male and female patients. Here,
Externí odkaz:
https://doaj.org/article/6d50af65e720459594556a6b25493963
Autor:
Dosh Whye, Delaney Wood, Kristina H. Kim, Cidi Chen, Nina Makhortova, Mustafa Sahin, Elizabeth D. Buttermore
Publikováno v:
Current protocols. 2(10)
Neuromesodermal progenitors represent a unique, bipotent population of progenitors residing in the tail bud of the developing embryo, which give rise to the caudal spinal cord cell types of neuroectodermal lineage as well as the adjacent paraxial som
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7f0a83278d6c6762790131a09dc480
https://pubmed.ncbi.nlm.nih.gov/36264199
https://pubmed.ncbi.nlm.nih.gov/36264199