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Akademický článek

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

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

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Akademický článek

Cortical neurons obtained from patient-derived iPSCs with GNAO1 p.G203R variant show altered differentiation and functional properties

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

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Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities

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

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Applying Deep Neural Network Analysis to High-Content Image-Based Assays

Autor: Samuel Yang, Arunachalam Narayanaswamy, Philip C. Nelson, Nina R. Makhortova, D. Michael Ando, Anton Geraschenko, Liyong Deng, Wendy K. Chung, Brian Williams, Lee L. Rubin, Zan Armstrong, Marc Berndl, Jon Hazard, Liadan O'Callaghan, Thorsten M. Schlaeger, Subhashini Venugopalan, Minjie Fan, Scott Lipnick, Dosh Whye

Publikováno v: Slas Discovery

The etiological underpinnings of many CNS disorders are not well understood. This is likely due to the fact that individual diseases aggregate numerous pathological subtypes, each associated with a complex landscape of genetic risk factors. To overco

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b5ec320f7943ed8fa30a305be6cc623
http://europepmc.org/articles/PMC6710615

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Targeting Nonclassical Oncogenes for Therapy in T-ALL

Autor: Adolfo A. Ferrando, Evgeni Efimenko, Mireia Castillo, Jianchung Chen, Kim De Keersmaecker, Dosh Whye, Valeria Tosello, Carlos Cordon-Cardo, Mary Ann Thompson, Adam Kashishian, Utpal P. Davé, Prem S. Subramaniam, Thomas G. Diacovo, Brian J. Lannutti

Publikováno v: Cancer Cell. 21(4):459-472

SummaryConstitutive phosphoinositide 3-kinase (PI3K)/Akt activation is common in T cell acute lymphoblastic leukemia (T-ALL). Although four distinct class I PI3K isoforms (α, β, γ, δ) could participate in T-ALL pathogenesis, none has been implica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cce37400b3eae09ad0d0fa62bb6c83cf

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Proteomic assessment of a cell model of spinal muscular atrophy

Autor: Douglas A. Kerr, Dosh Whye, Robert W. Mason, Lisa Glazewski, Wenlan Wang, Kelvin H. Lee, Chia-Yen Wu, Leila Choe

Publikováno v: BMC Neuroscience, Vol 12, Iss 1, p 25 (2011)
BMC Neuroscience

Background Deletion or mutation(s) of the survival motor neuron 1 (SMN1) gene causes spinal muscular atrophy (SMA), a neuromuscular disease characterized by spinal motor neuron death and muscle paralysis. Complete loss of the SMN protein is embryonic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f1ca0f33934d25ddd1f87f56ba44d75

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Therapeutic Utility of PI3Kγ Inhibition in Leukemogenesis and Tumor Cell Survival

Autor: Adam Kashishian, Thomas G. Diacovo, Prem S. Subramaniam, Adolfo A. Ferrando, Evgeni Efimenko, Jianchung Chen, Valeria Tosello, Dosh Whye, Mireia Castillo, Utpal P. Davé, Kim De Keersmaecker, Carlos Cordon-Cardo, Mary Ann Thompson, Brian Lannutti

Publikováno v: Blood. 120:1492-1492

Abstract 1492 Aberrant activation of the PI3K/Akt signaling pathway is a frequent event in cancer including various types of leukemia. Consequently, much emphasis has been placed on developing inhibitors that target this pathway. However, this would

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::db0b84187bd432590f2adbd9a71b1398
https://doi.org/10.1182/blood.v120.21.1492.1492

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