Results 41 to 50 of about 5,768 (191)

The spectrum of mutations in UBE3A causing Angelman syndrome [PDF]

Human Molecular Genetics, 1999
Angelman syndrome (AS) is characterized by mental retardation, absence of speech, seizures and motor dysfunction. AS is caused by maternal deletions for chromosome 15q11-q13, paternal uniparental disomy (UPD), imprinting defects or loss-of-function mutations in the UBE3A locus which encodes E6-AP ubiquitin-protein ligase.
Fang, P., Lev-Lehman, E., Tsai, T. F., Matsuura, T., Benton, C. S., Sutcliffe, J. S., Christian, S. L., Kubota, T., Halley, D. J., Meijers-Heijboer, H., Langlois, S., Graham, J. M., Beuten, J., Willems, P. J., Ledbetter, D. H., Beaudet, A. L.   +15 more
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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
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Ube3a expression is not altered in Mecp2 mutant mice [PDF]

Human Molecular Genetics, 2006
Rett syndrome (RTT) is a neurodevelopmental disorder characterized by cognitive regression, loss of purposeful hand movements and speech, stereotypies, ataxia, seizures, mental retardation and acquired microcephaly. Mutations in MECP2, encoding methyl-CpG-binding protein 2, are responsible for approximately 90% of classic RTT cases.
Charandle, Jordan, Uta, Francke
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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
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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
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Characterization of ube3a mutations.

, 2016
(A) The percent amino acid identity/similarity between Drosophila Ube3a and human UBE3A. (B) Intron-exon organization and various mutations of ube3a. Coding and non-coding exons are represented by black and empty rectangles, respectively.
Yong Q. Zhang (399401), Wenhua Li (426756), Hui Zhao (7395), Kuldeep Kaur (3166440), Qifu Wang (399399), Shan Jin (698618), Yong-chuan Zhu (3166434), Hui Zhi (106532), Zhi-Qi Xiong (65948), Aiyu Yao (699624), Mingyue Jia (3166437), Guoli Zhao (699622)   +11 more
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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature

BMC Medical Genetics, 2017
Background Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype.
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart   +11 more
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Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells. [PDF]

PLoS ONE, 2015
Angelman Syndrome (AS) is a devastating neurodevelopmental disorder characterized by developmental delay, speech impairment, movement disorder, sleep disorders and refractory epilepsy.
Mark D Grier, Robert P Carson, Andre Hollis Lagrange   +2 more
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Ube3a expression in other brain regions

, 2015
A) Representative data for Ube3a expression in P0 and P42 subcortical lysates (thalamus and hypothalamus). B) Quantification shows approximately 5–10% residual paternal Ube3a at birth and P42.
Robert P. Carson (421654), Mark D. Grier (726986), Andre Hollis Lagrange (726987)   +2 more
core   +1 more source

UBE3A regulates the transcription of IRF, an antiviral immunity [PDF]

Human Molecular Genetics, 2019
Abstract UBE3A is a gene responsible for the pathogenesis of Angelman syndrome (AS), a neurodevelopmental disorder characterized by symptoms such as intellectual disability, delayed development and severe speech impairment. UBE3A encodes an E3 ubiquitin ligase, for which several targets have been identified, including synaptic ...
Ryohei Furumai, Kota Tamada, Xiaoxi Liu, Toru Takumi   +3 more
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