Results 121 to 130 of about 9,461 (226)

Rescue of neurological deficits in a mouse model for Angelman Syndrome by reduction of αCaMKII inhibitory phosphorylation [PDF]

, 2007
Angelman Syndrome (AS) is a severe neurological disorder characterized by mental retardation, motor dysfunction and epilepsy. We now show that the molecular and cellular deficits of an AS mouse model can be rescued by introducing an additional mutation ...
Avila Freire, R. (Rogerio) de, Elgersma, Y. (Ype), Gustin, R.M. (Richard), Harris, K.D., Hojjati, M.R. (Mohammad Reza), Jiang, Y., Qiu, S., Weeber, E.J., Woerden, G.M. (Geeske) van   +8 more
core   +1 more source

Transcriptional reprogramming restores UBE3A brain-wide and rescues behavioral phenotypes in an Angelman syndrome mouse model [PDF]

, 2023
Henriette O’Geen, Ulrika Beitnere, Miranda S. Garcia, Anna Adhikari, David Cameron, Timothy A. Fenton, Nycole A. Copping, Peter Deng, Samantha Lock, Julian Halmai, Isaac J. Villegas, Jiajian Liu, Danhui Wang, Kyle D. Fink, Jill L. Silverman, David J. Segal   +15 more
openalex   +1 more source

The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons

Molecular Autism, 2019
Background Although neuronal extracellular sensing is emerging as crucial for brain wiring and therefore plasticity, little is known about these processes in neurodevelopmental disorders.
Ilaria Tonazzini, Geeske M. Van Woerden, Cecilia Masciullo, Edwin J. Mientjes, Ype Elgersma, Marco Cecchini   +5 more
doaj   +1 more source

Prader–Willi syndrome: genotype, cause, phenotype and management

, 2012
Prader–Willi syndrome (PWS) is a complex neurodevelopmental genetic condition that results in a range of phenotypic features including hypotonia, hyperphagia and behavioural difficulties.
Pogson, Delia
core   +1 more source

The E3 ubiquitin ligase UBE3A is an integral component of the molecular circadian clock through regulating the BMAL1 transcription factor [PDF]

, 2014
Nicole Gossan, Feng Zhang, Baoqiang Guo, Ding Jun Jin, Hikari Yoshitane, Aiyu Yao, Nick R. J. Glossop, Yongqing Zhang, Yoshitaka Fukada, Qing‐Jun Meng   +9 more
openalex   +1 more source

P104: Correlating UBE3A enzyme activity with clinical severity in Angelman syndrome* [PDF]

, 2023
Bhavana Ambil, Jalin Stelzer, Wen‐Hann Tan, Jason J. Yi, Elizabeth Jalazo   +4 more
openalex   +1 more source

1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes

BMC Medical Genetics, 2012
Background More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect.
De Molfetta Greice Andreotti, Ferreira Cristiane Ayres, Vidal Daniel Onofre, de Rosso Giuliani Liane, Maldonado Maria José, Silva Wilson Araujo   +5 more
doaj   +1 more source

A First-Stage Approximation to Identify New Imprinted Genes through Sequence Analysis of Its Coding Regions [PDF]

, 2010
Investigación dirigida por Antoni Romeu y Oswaldo Trelles. In the present study, a positive training set of 30 known human imprinted gene coding regions are compared with a set of 72 randomly sampled human nonimprinted gene coding regions (negative ...
Daura Oller, Elias
core  

Dynamic shift in localization of UBE3A across developmental stages in an Angelman syndrome mouse model

Neurobiology of Disease
The ubiquitin-proteasome pathway (UPP) plays a crucial role in cellular homeostasis by regulating protein degradation. UBE3A, an E3 ubiquitin ligase encoded by the UBE3A gene, is maternally expressed in neurons and linked to neurodevelopmental disorders ...
Pooja Kri Gupta, Yonatan Feuermann, Hanoch Kaphzan   +2 more
doaj   +1 more source

UBE3A–mediated p18/LAMTOR1 ubiquitination and degradation regulate mTORC1 activity and synaptic plasticity [PDF]

, 2018
Jiandong Sun, Yan Liu, Yousheng Jia, Jennifer Tran, Xiaoning Hao, Wei Lin, Gary Lynch, Michel Baudry, Xiaoning Bi   +8 more
openalex   +1 more source