Asset Details
Do you wish to reserve the book?
Epigenetic Regulation of UBE3A and Roles in Human Neurodevelopmental Disorders
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Epigenetic Regulation of UBE3A and Roles in Human Neurodevelopmental Disorders
Do you wish to request the book?
Epigenetic Regulation of UBE3A and Roles in Human Neurodevelopmental Disorders
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Epigenetic Regulation of UBE3A and Roles in Human Neurodevelopmental Disorders
2015
Overview
The E3 ubiquitin ligase UBE3A, also known as E6-AP, has a multitude of ascribed functions and targets relevant to human health and disease. Epigenetic regulation of the UBE3A gene by parentally imprinted noncoding transcription within human chromosome 15q11.2-q13.3 is responsible for the maternal-specific effects of 15q11.2-q13.3 deletion or duplication disorders. Here, we review the evidence for diverse and emerging roles for UBE3A in the proteasome, synapse and nucleus in regulating protein stability and transcription as well as the current mechanistic understanding of UBE3A imprinting in neurons. Angelman and Dup15q syndromes as well as experimental models of these neurodevelopmental disorders are highlighted as improving understanding of UBE3A and its complex regulation for improving therapeutic strategies.
Publisher
Future Medicine Ltd
Subject
/ Angelman Syndrome - metabolism
/ Angelman Syndrome - pathology
/ Autism
/ Chromosomes, Human, Pair 15 - genetics
/ Chromosomes, Human, Pair 15 - metabolism
/ Dopamine
/ Enzymes
/ Female
/ Genes
/ Humans
/ Insects
/ Male
/ Mutation
/ Neurodevelopmental disorders
/ Neurons
/ Proteasome Endopeptidase Complex - metabolism
/ Proteins
/ Review
/ Synapses
/ Ubiquitin-Protein Ligases - genetics
