UBE3A-mediated regulation of imprinted genes and epigenome-wide marks in human neurons

Autor: S. Jesse Lopez, Keith Dunaway, M. Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-ichi Horike, David J. Segal, Janine M. LaSalle

Publikováno v: Epigenetics, Vol 12, Iss 11, Pp 982-990 (2017)

The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13

Externí odkaz: https://doaj.org/article/4fbf819a357d429da83796bc124fa9fe

Imprinting effects of UBE3A loss on synaptic gene networks and Wnt signaling pathways

Autor: David J. Segal, Benjamin I. Laufer, S. Jesse Lopez, Henriette O'Geen, Jill L. Silverman, Janine M. LaSalle, Ulrika Beitnere, Elizabeth L. Berg

Publikováno v: Hum Mol Genet
Human molecular genetics, vol 28, iss 22

Ubiquitin E3 ligase 3A (UBE3A) encodes an E3 ubiquitin ligase whose loss from the maternal allele causes the neurodevelopmental disorder Angelman syndrome (AS). Previous studies of UBE3A function have not examined full Ube3a deletion in mouse, the co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7b0f29c5e05b402e71ab6d21c112d41
https://pubmed.ncbi.nlm.nih.gov/31625566

Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes

Autor: Shin-ichi Horike, Paul Lott, Rochelle L. Coulson, Roy G. Chu, S. Jesse Lopez, Janine M. LaSalle, M. Saharul Islam, Keith W. Dunaway, Annie Vogel Ciernia, Makiko Meguro-Horike, Isaac N. Pessah, Charles E. Mordaunt, Dag H. Yasui, Ian F Korf

Publikováno v: Dunaway, KW; Islam, MS; Coulson, RL; Lopez, SJ; Vogel Ciernia, A; Chu, RG; et al.(2016). Cumulative Impact of Polychlorinated Biphenyl and Large Chromosomal Duplications on DNA Methylation, Chromatin, and Expression of Autism Candidate Genes. Cell Reports, 17(11), 3035-3048. doi: 10.1016/j.celrep.2016.11.058. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/4tx8d5kt
Cell reports, vol 17, iss 11

© 2016 The Author(s) Rare variants enriched for functions in chromatin regulation and neuronal synapses have been linked to autism. How chromatin and DNA methylation interact with environmental exposures at synaptic genes in autism etiologies is cur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bbf05bb4588356b42f7254a70bdc3ae
http://www.escholarship.org/uc/item/4tx8d5kt