Results 111 to 120 of about 1,142,913 (203)

The gain-of-function UBE3A Q588E variant causes Angelman-like neurodevelopmental phenotypes in mice

Scientific Reports
Mutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome. However, these phenotypes are highly heterogeneous raising questions about the mechanistic basis of
Kellan P. Weston, Anna M. Gunelson, Susan E. Maloney, Xia Ge, Jalin A. Stelzer, Kwang-Soo Kim, Shylyn Collier, Marissa M. Mindt, Megan J. Agajanian, Michael B. Major, Dennis Goldfarb, Kevin K. Noguchi, Jason J. Yi   +12 more
doaj   +1 more source

Motor strategies in Angelman syndrome, spastic diplegia and normal children

, 1997
info:eu-repo/semantics ...
Bouillot, Ethel, Dan, Bernard, Christiaens, Florence, Boyd, S G, Boyd, Stewart G., Chéron, Guy, Bengoetxea, Ana   +6 more
core  

Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life. [PDF]

J Neurodev Disord
Domaradzki J, Walkowiak D.
europepmc   +1 more source

Mouse model of Angelman syndrome exhibits reduced retinal activity during development. [PDF]

Front Neurosci
Gupta RK, Fisch AJ, Orsi FS, Tiriac A.
europepmc   +1 more source

Region-dependent differences in tonic inhibition underlie epileptic features in Angelman syndrome model mice. [PDF]

Epilepsia
Watanabe M, Goto T, Miyoshi R, Nakakubo S, Hiramatsu Y, Nakajima M, Ueda Y, Shiraishi H, Manabe A, Mondal P, Sharmin D, Poe MM, Cook JM, Egawa K.   +13 more
europepmc   +1 more source

Cannabidiol corrects sleep deficits and reduces spontaneous seizures in Angelman syndrome model mice. [PDF]

Neuropsychopharmacology
Shannon T, Najeeb M, Yi YJ, Shen Y, Gu B.   +4 more
europepmc   +1 more source

A de novo genome assembly of an Angelman syndrome pig (Sus scrofa domesticus) model to resolve SNHG14. [PDF]

J Hered
Taylor AJ, Foley NM, Childers IR, Murphy WJ, Dindot SV.   +4 more
europepmc   +1 more source

Adenosine Receptor Functionality and Desensitization Machinery in a Neuronal Cell Model of Angelman Syndrome. [PDF]

J Dev Biol
Contestabile M, Martins de Almeida JF, De Cesari C, Tonazzini I, Artini PG, Daniele S.   +5 more
europepmc   +1 more source

A dual-reporter mouse for therapeutic discovery in Angelman syndrome. [PDF]

JCI Insight
Vihma H, James LM, Nourie HC, Smith AL, Liang S, Friar CA, Vulli T, Xing L, Cowley DO, Burette AC, Philpot BD.   +10 more
europepmc   +1 more source

UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes. [PDF]

Mol Psychiatry
Krzeski JC, Mientjes EJ, Judson MC, Dong G, Hipp RI, Lien KH, Gu B, Philpot BD, Elgersma Y.   +8 more
europepmc   +1 more source