Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11. 2-q13. 3 duplication syndrome
NA Copping, SGB Christian, DJ Ritter… - Human molecular …, 2017 - academic.oup.com
Maternally derived copy number gains of human chromosome 15q11. 2-q13. 3 (Dup15q
syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay …
syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay …
Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a
M Sato - Frontiers in Cellular Neuroscience, 2017 - frontiersin.org
The human Ube3a gene encodes an E3 ubiquitin ligase and exhibits brain-specific genomic
imprinting. Genetic abnormalities that affect the maternal copy of this gene cause the …
imprinting. Genetic abnormalities that affect the maternal copy of this gene cause the …
Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα
Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high
rates of pediatric epilepsy. Additional copies of the E3 ubiquitin ligase UBE3A are thought to …
rates of pediatric epilepsy. Additional copies of the E3 ubiquitin ligase UBE3A are thought to …
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster
J Straub, A Gregor, T Sauerer, A Fliedner, L Distel… - Scientific Reports, 2020 - nature.com
Neurodevelopmental disorders (NDDs) are clinically and genetically extremely
heterogeneous with shared phenotypes often associated with genes from the same …
heterogeneous with shared phenotypes often associated with genes from the same …
Genomic imprinting does not reduce the dosage of UBE3A in neurons
Background The ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-
specific expression in neurons and biallelically expressed in all other cell types. Both loss-of …
specific expression in neurons and biallelically expressed in all other cell types. Both loss-of …
Investigations into the Improvement of Angelman Syndrome Therapeutics
AW Nenninger - 2022 - search.proquest.com
Angelman syndrome (AS) is a rare genetic neurodevelopmental disease caused by
interruption of the function of the ubiquitin ligase UBE3A gene. Patients experience an early …
interruption of the function of the ubiquitin ligase UBE3A gene. Patients experience an early …
[图书][B] Investigation of Cell-Type-Specific Effects and Synergistic Interactions Between Genes in Duplication 15q Syndrome
KA Hope - 2019 - search.proquest.com
Duplication 15q syndrome (Dup15q) is a genetic disorder caused by duplications of the
15q11. 2-q13. 1 region and is characterized by developmental delay, autism spectrum …
15q11. 2-q13. 1 region and is characterized by developmental delay, autism spectrum …
Disrupted synaptic transmission and abnormal short-term synaptic plasticity in an Angelman syndrome mouse model
G Li - 2017 - keep.lib.asu.edu
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by
developmental delays, intellectual disabilities, impaired language and speech, and …
developmental delays, intellectual disabilities, impaired language and speech, and …