Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons

Autor: Catarina M. Seabra, Tatsiana Aneichyk, Serkan Erdin, Derek J. C. Tai, Celine E. F. De Esch, Parisa Razaz, Yu An, Poornima Manavalan, Ashok Ragavendran, Alexei Stortchevoi, Clemer Abad, Juan I. Young, Patricia Maciel, Michael E. Talkowski, James F. Gusella

Publikováno v: Molecular Autism, Vol 11, Iss 1, Pp 1-15 (2020)

Abstract Background MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome sequencing studies ha

Externí odkaz: https://doaj.org/article/b709c64d351049a6a80897cdee6396b8

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

Autor: Marina Kovalenko, Serkan Erdin, Marissa A Andrew, Jason St Claire, Melissa Shaughnessey, Leroy Hubert, João Luís Neto, Alexei Stortchevoi, Daniel M Fass, Ricardo Mouro Pinto, Stephen J Haggarty, John H Wilson, Michael E Talkowski, Vanessa C Wheeler

Publikováno v: eLife, Vol 9 (2020)

Somatic expansion of the Huntington’s disease (HD) CAG repeat drives the rate of a pathogenic process ultimately resulting in neuronal cell death. Although mechanisms of toxicity are poorly delineated, transcriptional dysregulation is a likely cont

Externí odkaz: https://doaj.org/article/7ec6f42abf9f427c8434769cf8737ee8

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

Autor: Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D., Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J., Katsanis, Nicholas, Gusella, James F., Talkowski, Michael E.

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2014 Oct . 111(42), 14971-14971.

Externí odkaz: http://dx.doi.org/10.1073/pnas.1405266111

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

Autor: Elisabetta Morini, Dadi Gao, Emily M. Logan, Monica Salani, Aram J. Krauson, Anil Chekuri, Yei-Tsung Chen, Ashok Ragavendran, Probir Chakravarty, Serkan Erdin, Alexei Stortchevoi, Jesper Q. Svejstrup, Michael E. Talkowski, Susan A. Slaugenhaupt

Publikováno v: Morini, E, Gao, D, Logan, E M, Salani, M, Krauson, A J, Chekuri, A, Chen, Y T, Ragavendran, A, Chakravarty, P, Erdin, S, Stortchevoi, A, Svejstrup, J Q, Talkowski, M E & Slaugenhaupt, S A 2022, ' Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage ', Journal of Genetics and Genomics, vol. 49, no. 7, pp. 654-665 . https://doi.org/10.1016/j.jgg.2021.11.011
J Genet Genomics

Familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy, is caused by a mutation in the Elongator complex protein 1 (ELP1) gene that leads to a tissue-specific reduction of ELP1 protein. Our work to generate a phenotypic mouse model

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::341ff35a7aab7989d09801673cb24a37

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage

Autor: Anil Kumar Chekuri, Dadi Gao, Probir Chakravarty, Emily M. Logan, Jesper Q. Svejstrup, Monica Salani, Susan A. Slaugenhaupt, Elisabetta Morini, Michael E. Talkowski, Chen Y, Alexei Stortchevoi, Aram J. Krauson, Ashok Ragavendran, Serkan Erdin

Elongator is a highly conserved protein complex required for transcriptional elongation, intracellular transport and translation. Elongator complex protein 1 (ELP1) is the scaffolding protein of Elongator and is essential for its assembly and stabili

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a0b56c526fc970a645c02a94dec7929
https://doi.org/10.1101/2021.04.16.440179