Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985823%3A_____%2F20%3A00523838" target="_blank" >RIV/67985823:_____/20:00523838 - isvavai.cz</a>
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/full/10.1002/aur.2267" target="_blank" >https://onlinelibrary.wiley.com/doi/full/10.1002/aur.2267</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/aur.2267" target="_blank" >10.1002/aur.2267</a>
Alternative languages
Result language
angličtina
Original language name
Generation of a Novel Rat Model of Angelman Syndrome with a Complete Ube3a Gene Deletion
Original language description
Angelman syndrome (AS) is a rare genetic disorder characterized by severe intellectual disability, seizures, lack of speech, and ataxia. The gene responsible for AS was identified as Ube3a and it encodes for E6AP, an E3 ubiquitin ligase. Currently, there is very little known about E6AP's mechanism of action in vivo or how the lack of this protein in neurons may contribute to the AS phenotype. Elucidating the mechanistic action of E6AP would enhance our understanding of AS and drive current research into new avenues that could lead to novel therapeutic approaches that target E6AP's various functions. To facilitate the study of AS, we have generated a novel rat model in which we deleted the rat Ube3a gene using CRISPR. The AS rat phenotypically mirrors human AS with loss of Ube3a expression in the brain and deficits in motor coordination as well as learning and memory. This model offers a new avenue for the study of AS.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Autism Research
ISSN
1939-3792
e-ISSN
—
Volume of the periodical
13
Issue of the periodical within the volume
3
Country of publishing house
US - UNITED STATES
Number of pages
13
Pages from-to
397-409
UT code for WoS article
000508275900001
EID of the result in the Scopus database
2-s2.0-85078655805