Molecular and behavioral consequences of Ube3a gene overdosage in mice
Author:
Funder
NIH
SFARI
NIH-NINDS
NIH-NICHD
NWO-ZonMw TOP
Dup15q Alliance
see below
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Link
https://insight.jci.org/articles/view/158953/files/pdf
Reference87 articles.
1. Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination;Robinson;Hum Genet,1993
2. Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome.
3. Interstitial duplications of chromosome region 15q11q13: Clinical and molecular characterization
4. The mechanisms involved in formation of deletions and duplications of 15q11-q13.
5. Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
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1. Sleep EEG signatures in mouse models of 15q11.2-13.1 duplication (Dup15q) syndrome;Journal of Neurodevelopmental Disorders;2024-07-16
2. Sex-biasing influence of autism-associated Ube3a gene overdosage at connectomic, behavioral, and transcriptomic levels;Science Advances;2024-07-12
3. Altered motor learning and coordination in mouse models of autism spectrum disorder;Frontiers in Cellular Neuroscience;2023-11-08
4. Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11‐q13 duplication syndrome;Epilepsia;2023-06-29
5. The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons;Stem Cell Reports;2023-04
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