Results 11 to 20 of about 5,768 (191)

Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration

International Journal of Molecular Sciences
The ubiquitin-protein ligase E3A (UBE3A, aka E6-AP), an E3 ligase belonging to the HECT family, plays crucial roles in the stability of various proteins through the proteasomal degradation system.
Yu-Wen Alvin Huang
exaly   +4 more sources

Subcellular organization of UBE3A in human cerebral cortex [PDF]

Molecular Autism, 2018
Background Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its ...
Alain C. Burette, Matthew C. Judson, Alissa N. Li, Edward F. Chang, William W. Seeley, Benjamin D. Philpot, Richard J. Weinberg   +6 more
doaj   +7 more sources

A luminescence-based biosensor to measure endogenous UBE3A activity. [PDF]

iScience
Loss- and gain-of-function (LOF and GOF) mutations in the E3 ubiquitin ligase UBE3A cause distinct neurodevelopmental disorders. The AZUL domain of UBE3A binds with low nanomolar affinity to a 45 amino acid (aa) region of PSMD4.
Xing L, Lamberti SU, Nourie HC, Rust TE, Hu W, Zylka MJ.   +5 more
europepmc   +4 more sources

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations [PDF]

Human Molecular Genetics, 2021
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by deletion (~75%) or mutation (~10%) of the ubiquitin E3 ligase A (UBE3A) gene, which encodes a HECT type E3 ubiquitin protein ligase.
van den Burg, Janny, de Graaf, Ilona J., Bossuyt, Stijn N. V., Heussler, Helen, Punt, A. Mattijs, Williams, Mark G., Bossuyt, Stijn N.V., Elgersma, Ype, Distel, Ben, Distel, Ben; id_orcid, Elgersma, Ype; id_orcid   +10 more
core   +7 more sources

Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin Ligase Ube3a

Frontiers in Behavioral Neuroscience, 2022
Normal neurodevelopment requires precise expression of the key ubiquitin ligase gene Ube3a. Comparing newly generated mouse models for Ube3a downregulation (models of Angelman syndrome) vs.
Matthew P Anderson, Xinming Zhuo, Alena Sumova   +2 more
exaly   +3 more sources

Genomic imprinting does not reduce the dosage of UBE3A in neurons [PDF]

Epigenetics & Chromatin, 2017
Background The ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types.
Paul R. Hillman, Sarah G. B. Christian, Ryan Doan, Noah D. Cohen, Kranti Konganti, Kory Douglas, Xu Wang, Paul B. Samollow, Scott V. Dindot   +8 more
doaj   +2 more sources

Molecular and behavioral consequences of Ube3a gene overdosage in mice [PDF]

JCI Insight, 2022
Chromosome 15q11.2–q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder.
A. Mattijs Punt, Matthew C. Judson, Michael S. Sidorov, Brittany N. Williams, Naomi S. Johnson, Sabine Belder, Dion den Hertog, Courtney R. Davis, Maximillian S. Feygin, Patrick F. Lang, Mehrnoush Aghadavoud Jolfaei, Patrick J. Curran, Wilfred F.J. van IJcken, Ype Elgersma, Benjamin D. Philpot   +14 more
doaj   +2 more sources

UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome [PDF]

Developmental Medicine & Child Neurology, 2021
Half a century ago, Harry Angelman reported three patients with overlapping clinical features, now well known as Angelman syndrome. Angelman syndrome is caused by mutations affecting the maternally inherited UBE3A gene, which encodes an E3-ubiquitin ...
Elgersma, Y. (Ype), Sonzogni, M. (Monica), Elgersma, Ype, Monica Sonzogni, Sonzogni, Monica, Elgersma, Ype; id_orcid, Ype Elgersma   +6 more
core   +5 more sources

A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternal UBE3A reporter [PDF]

Frontiers in Cell and Developmental Biology
IntroductionAngelman Syndrome (AS) is characterized in large part by the loss of functional UBE3A protein in mature neurons. A majority of AS etiologies is linked to deletion of the maternal copy of the UBE3A gene and epigenetic silencing of the paternal
Gautami R. Kelkar, Samantha R. Stuppy, Samantha R. Stuppy, Dilara Sen, Z. Begum Yagci, Linna Han, Lexi Land, Jessica K. Hartman, Albert J. Keung, Albert J. Keung   +9 more
doaj   +2 more sources

Subcellular organization of UBE3A in neurons [PDF]

Journal of Comparative Neurology, 2016
Ubiquitination regulates a broad array of cellular processes, and defective ubiquitination is implicated in several neurological disorders. Loss of the E3 ubiquitin-protein ligase UBE3A causes Angelman syndrome.
Weinberg, Richard J., Burette, Susan, Burette, Alain C., Phend, Kristen D., Philpot, Benjamin D., Judson, Matthew C.   +5 more
core   +4 more sources