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Title
Mutation Update for UBE3A Variants in Angelman Syndrome
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 35, Issue 12, Pages 1407-1417
Publisher
Wiley
Online
2014-09-11
DOI
10.1002/humu.22687
References
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Related references
Note: Only part of the references are listed.- Molecular and clinical characterization of Angelman syndrome in Chinese patients
- (2013) J.-L. Bai et al. CLINICAL GENETICS
- Truncation of Ube3a-ATS Unsilences Paternal Ube3a and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model
- (2013) Linyan Meng et al. PLoS Genetics
- Reversal of Impaired Hippocampal Long-Term Potentiation and Contextual Fear Memory Deficits in Angelman Syndrome Model Mice by ErbB Inhibitors
- (2012) Hanoch Kaphzan et al. BIOLOGICAL PSYCHIATRY
- Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a
- (2012) Linyan Meng et al. HUMAN MOLECULAR GENETICS
- Angelman Syndrome Due to a Termination Codon Mutation of the UBE3A Gene
- (2012) Almundher Al-Maawali et al. JOURNAL OF CHILD NEUROLOGY
- Alterations in Intrinsic Membrane Properties and the Axon Initial Segment in a Mouse Model of Angelman Syndrome
- (2011) H. Kaphzan et al. JOURNAL OF NEUROSCIENCE
- Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
- (2011) Hsien-Sung Huang et al. NATURE
- Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
- (2011) Angela M. Mabb et al. TRENDS IN NEUROSCIENCES
- EphB-Mediated Degradation of the RhoA GEF Ephexin5 Relieves a Developmental Brake on Excitatory Synapse Formation
- (2010) Seth S. Margolis et al. CELL
- The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc
- (2010) Paul L. Greer et al. CELL
- ‘Puppet’ Children A Report on Three Cases
- (2010) Harry Angelman DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Parental origin and functional relevance of a de novo UBE3A variant
- (2010) Bernhard Horsthemke et al. European Journal of Medical Genetics
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions
- (2009) Cristina Camprubí et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
- (2009) L. Abaied et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- E6AP promotes the degradation of the PML tumor suppressor
- (2009) I Louria-Hayon et al. CELL DEATH AND DIFFERENTIATION
- Angelman syndrome (AS, MIM 105830)
- (2009) Griet Van Buggenhout et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Insights into Ubiquitin Transfer Cascades from a Structure of a UbcH5B∼Ubiquitin-HECTNEDD4L Complex
- (2009) Hari B. Kamadurai et al. MOLECULAR CELL
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- UBE3A/E6-AP regulates cell proliferation by promoting proteasomal degradation of p27
- (2009) Amit Mishra et al. NEUROBIOLOGY OF DISEASE
- Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome
- (2008) A. Mishra et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
- Angelman Syndrome Due to a Novel Splicing Mutation of the UBE3A Gene
- (2008) Stefano Sartori et al. JOURNAL OF CHILD NEUROLOGY
- [11C]Flumazenil Positron Emission Tomography Analyses of Brain Gamma-Aminobutyric Acid Type A Receptors in Angelman Syndrome
- (2007) Naoko Asahina et al. JOURNAL OF PEDIATRICS
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