Results 61 to 70 of about 9,461 (226)

An Autism-Linked Mutation Disables Phosphorylation Control of UBE3A [PDF]

Cell, 2015
Deletion of UBE3A causes the neurodevelopmental disorder Angelman syndrome (AS) while duplication or triplication of UBE3A is linked to autism. These genetic findings suggest that the ubiquitin ligase activity of UBE3A must be tightly maintained to promote normal brain development.
Yi, Jason J., Berrios, Janet, Newbern, Jason M., Snider, William D., Philpot, Benjamin D., Hahn, Klaus M., Zylka, Mark J.   +6 more
openaire   +2 more sources

Neurobehavioral and Electroencephalographic Abnormalities in Ube3aMaternal-Deficient Mice

Neurobiology of Disease, 2002
Angelman syndrome (AS), characterized by motor dysfunction, mental retardation, and seizures, is caused by several genetic etiologies involving chromosome 15q11–q13, including mutations of the UBE3A gene.
Kiyonori Miura, Tatsuya Kishino, En Li, Hayley Webber, Pieter Dikkes, Gregory L. Holmes, Joseph Wagstaff   +6 more
doaj   +1 more source

Evaluation of UBE3A antibodies in mice and human cerebral organoids

Scientific Reports, 2021
UBE3A is an E3 ubiquitin ligase encoded by the neurally imprinted UBE3A gene. The abundance and subcellular distribution of UBE3A has been the topic of many previous studies as its dosage and localization has been linked to neurodevelopmental disorders ...
Dilara Sen, Zuzana Drobna, Albert J. Keung   +2 more
doaj   +1 more source

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities [PDF]

, 2012
The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual disabilities has greatly informed our understanding of the molecular pathways critical for normal synaptic function.
Bear, Mark, Zoghbi, Huda Y.
core   +1 more source

Regulating the human HECT E3 ligases [PDF]

, 2018
Ubiquitination, the covalent attachment of ubiquitin to proteins, by E3 ligases of the HECT (homologous to E6AP C terminus) family is critical in controlling diverse physiological pathways.
Distel, B. (Ben), Sluimer, J. (Jasper)
core   +9 more sources

Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey

Frontiers in Neuroanatomy
Angelman syndrome (AS) is a neurogenetic disorder caused by mutations or deletions in the maternally-inherited UBE3A allele, leading to a loss of UBE3A protein expression in neurons.
Chavely Gonzalez Ramirez, Chavely Gonzalez Ramirez, Sarah G. Salvador, Sarah G. Salvador, Ridthi Kartik Rekha Patel, Ridthi Kartik Rekha Patel, Sarah Clark, Sarah Clark, Noah W. Miller, Noah W. Miller, Lucas M. James, Lucas M. James, Nicholas W. Ringelberg, Nicholas W. Ringelberg, Jeremy M. Simon, Jeremy M. Simon, Jeffrey Bennett, Jeffrey Bennett, David G. Amaral, David G. Amaral, Alain C. Burette, Alain C. Burette, Benjamin D. Philpot, Benjamin D. Philpot, Benjamin D. Philpot   +24 more
doaj   +1 more source

Putative imprinted gene expression in uniparental bovine embryo models [PDF]

, 2008
Altered patterns of gene expression and the imprinted status of genes have a profound effect on cell physiology and can markedly alter embryonic and fetal development.
Abdollahi, Andrew J. French, Avery, Barton, Bernardi, Boccaccio, Cesare Galli, Daniels, Delaval, Doerks, Doherty, Ferguson-Smith, Gardner, Glenn, Gutierrez-Adan, Hagemann, Hagiwara, Hall, Hatanaka, Hiendleder, Higashimoto, Huntriss, Irina Lagutina, Jong, Jong, Katrina J. Wilson, Khatib, Killian, Kim, Kosaki, Lagutina, Lee, Lee, Lee, Li, Li, Mann, McGrath, Melissa A. Cooney, Memili, Michael K. Holland, Mizuno, Monk, Murphy, Nakabayashi, Nancy T. D' Cruz, Obata, Okamoto, Okamura, Okamura, Peterson, Piras, R. Tayfur Tecirlioglu, Relaix, Rougeulle, Ruddock, Ruf, Salpekar, Sotomaru, Sugawara, Surani, Surani, Szabo, Tanimoto, Thurston, Varrault, Vu, Walter, Williams, Wrzeska, Xu, Yang, Yohn, Young   +73 more
core   +1 more source

UBE3A: An E3 Ubiquitin Ligase With Genome-Wide Impact in Neurodevelopmental Disease

Frontiers in Molecular Neuroscience, 2019
UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication leads to distinct neurodevelopment disorders Angelman and Dup15q syndromes.
Simon Jesse Lopez, Simon Jesse Lopez, Simon Jesse Lopez, Simon Jesse Lopez, David J. Segal, David J. Segal, David J. Segal, David J. Segal, Janine M. LaSalle, Janine M. LaSalle, Janine M. LaSalle, Janine M. LaSalle   +11 more
doaj   +1 more source

Behavior Decoding Delineates Seizure Microfeatures and Associated Sudden Death Risks in Mouse Models of Epilepsy

Annals of Neurology, EarlyView.
Objective Behavior and motor manifestations are distinctive yet often overlooked features of epileptic seizures. Seizures can result in transient disruptions in motor control, often organized into specific behavioral sequences that can inform seizure types, onset zones, and outcomes.
Yuyan Shen, Jaden Thomas, Xianhui Chen, Jaden Zelidon, Mariam Najeeb, Abigayle Hahn, Ping Zhang, Aaron Sathyanesan, Bin Gu   +8 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source