Results 21 to 30 of about 5,768 (191)

Ube3a unsilencer for the potential treatment of Angelman syndrome

Nature Communications
Deletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigenetically silenced by a long non-coding antisense (UBE3A-ATS) in neurons, this nearly eliminates UBE3A protein in the brain.
Hanna Vihma, Kelin Li, Anna Welton-Arndt, Audrey L. Smith, Kiran R. Bettadapur, Rachel B. Gilmore, Eric Gao, Justin L. Cotney, Hsueh-Cheng Huang, Jon L. Collins, Stormy J. Chamberlain, Hyeong-Min Lee, Jeffrey Aubé, Benjamin D. Philpot   +13 more
doaj   +3 more sources

UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome [PDF]

Molecular Autism
Background Ubiquitin protein ligase E3A (UBE3A) regulates signaling pathways associated with autism spectrum disorders (ASDs). As an E3 ligase, UBE3A ubiquitinates and promotes the degradation of proteins crucial for regulating synaptic plasticity and ...
Xin Yang, Yuwen-Alvin Huang, John Marshall   +2 more
doaj   +2 more sources

Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons [PDF]

Nature, 2012
Angelman syndrome is a severe neurodevelopmental disorder caused by deletion or mutation of the maternal allele of the ubiquitin protein ligase E3A (Ube3a)1–3. In neurons, the paternal allele of Ube3a is intact but epigenetically silenced4–6, raising the
Hyeong-Min Lee, Huang, H-S, Bridges, Arlene S., Allen, J. A., Jayalakshmi Miriyala, Benjamin D. Philpot, Dutton, J. W., Zylka, Mark J., Chen, X., Roth, B. L., Dutton, J. Walter, Lee, Hyeong-Min, J. Walter Dutton, Bridges, A. S., Mabb, A. M., Roth, Bryan L., Mark J. Zylka, Allen, John A., Taylor-Blake, B., Jin, J., Xin Chen, Jin, Jian, Hsien-Sung Huang, Huang, Hsien-Sung, Miriyala, J., Lee, H-M, Philpot, B. D., Philpot, Benjamin D., Miriyala, Jayalakshmi, Taylor-Blake, Bonnie, Noah Sciaky, Jian Jin, Chen, Xin, Mabb, Angela M., John A. Allen, Ian F. King, Angela M. Mabb, Sciaky, Noah, Arlene S. Bridges, Sciaky, N., Zylka, M. J., Bonnie Taylor-Blake, Bryan L. Roth, King, Ian F.   +43 more
core   +3 more sources

Loss of UBE3A impacts both neuronal and non-neuronal cells in human cerebral organoids [PDF]

Communications Biology
Angelman syndrome is a neurodevelopmental disorder caused by (epi)genetic lesions of maternal UBE3A. Research has focused largely on the role of UBE3A in neurons due to its imprinting in that cell type.
R. Chris Estridge, Z. Begum Yagci, Dilara Sen, Tyler J. Johnson, Gautami R. Kelkar, Travis S. Ptacek, Jeremy M. Simon, Albert J. Keung   +7 more
doaj   +2 more sources

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

Cell, 2015
SummaryDeletion 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 ...
Yi, Jason J., Snider, William D., Philpot, Benjamin D., Berrios, Janet, Zylka, Mark J., Hahn, Klaus M., Newbern, Jason M.   +6 more
core   +3 more sources

UBE3A (ubiquitin protein ligase E3A) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2009
Review on UBE3A (ubiquitin protein ligase E3A), with data on DNA, on the protein encoded, and where the gene is ...
Scheffner, M, M Scheffner, K Matentzoglu, Matentzoglu, K   +3 more
core   +3 more sources

Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome [PDF]

Journal of Neurodevelopmental Disorders
Background Angelman syndrome (AS) is a single-gene neurodevelopmental disorder caused by loss of function of the maternal copy of the UBE3A gene. Nearly all individuals with AS lack speech, resulting in major impacts on daily life for patients and ...
Caleigh D. Guoynes, Grace Pavalko, Michael S. Sidorov   +2 more
doaj   +2 more sources

Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans [PDF]

Nucleic Acids Research, 2005
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, 'puppet-like' ataxic gait with jerky arm movements, seizures, EEG abnormalities, hyperactivity and bouts of inappropriate laughter. Individuals with AS fail to inherit a normal active maternal copy of the gene encoding ubiquitin protein ligase E3A (UBE3A ...
Landers, Miguel, Calciano, Margaret A., Colosi, Dan, Glatt-Deeley, Heather, Wagstaff, Joseph, Lalande, Marc   +5 more
openaire   +5 more sources

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome

eLife, 2023
UBE3A encodes ubiquitin protein ligase E3A, and in neurons its expression from the paternal allele is repressed by the UBE3A antisense transcript (UBE3A-ATS). This leaves neurons susceptible to loss-of-function of maternal UBE3A.
Dongwon Lee, Wu Chen, Heet Naresh Kaku, Xinming Zhuo, Eugene S Chao, Armand Soriano, Allen Kuncheria, Stephanie Flores, Joo Hyun Kim, Armando Rivera, Frank Rigo, Paymaan Jafar-nejad, Arthur L Beaudet, Matthew S Caudill, Mingshan Xue   +14 more
doaj   +1 more source

A protein regulated by UBE3A PEGs a potential biomarker [PDF]

Cell Reports Medicine, 2021
New research from Pandya and colleagues1 identifies PEG10 as a UBE3A-regulated protein that may underlie pathophysiology in Angelman syndrome neurons. PEG10 is a secreted protein, and this work suggests that it may be a potential biomarker for Angelman syndrome therapeutics under development.
Germain, Noelle D., Chamberlain, Stormy J.   +1 more
openaire   +2 more sources