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Angelman Syndrome Foundation
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Regulating the human HECT E3 ligases

Journal Article published 1 Jun 2018 in Cellular and Molecular Life Sciences volume 75 issue 17 on pages 3121 to 3141

Research funded by NWO-ZonMW (91216045) | Angelman Syndrome Foundation | Fondation Jérôme Lejeune

Authors: Jasper Sluimer, Ben Distel

Comprehensive motor testing in Fmr1-KO mice exposes temporal defects in oromotor coordination.

Journal Article published 2011 in Behavioral Neuroscience volume 125 issue 6 on pages 962 to 969

Research funded by National Institutes of Health (R03HD057244; R01NS060887; R01NS063009) | Health Science Center, University of Tennessee | Dystonia Medical Research Foundation | National Institute of Neurological Disease and Stroke (R01NS048458; R01NS069936) | Angelman Syndrome Foundation

Authors: Snigdha Roy, Yu Zhao, Melody Allensworth, Mohamed F. Farook, Mark S. LeDoux, Lawrence T. Reiter, Detlef H. Heck

Subcellular organization of UBE3A in human cerebral cortex

Journal Article published 19 Oct 2018 in Molecular Autism volume 9 issue 1

Research funded by National Institutes of Health (NS039444, NS092474, NS097831, P01AG019724, P50AG023501) | Angelman Syndrome Foundation

Authors: Alain C. Burette, Matthew C. Judson, Alissa N. Li, Edward F. Chang, William W. Seeley, Benjamin D. Philpot, Richard J. Weinberg

Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis

Journal Article published 8 May 2017 in Journal of Neurodevelopmental Disorders volume 9 issue 1

Research funded by National Institute of Neurological Disorders and Stroke (R01 NS085093, K23 NS092923) | Simons Foundation (SFARI 274426) | Angelman Syndrome Foundation (n/a) | Angelman Syndrome Alliance (n/a) | National Institute of Child Health and Human Development (T32 HD040127)

Authors: Michael S. Sidorov, Gina M. Deck, Marjan Dolatshahi, Ronald L. Thibert, Lynne M. Bird, Catherine J. Chu, Benjamin D. Philpot

Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman syndrome

Journal Article published Dec 2018 in Brain and Cognition volume 128 on pages 73 to 79

Research funded by Angelman Syndrome Foundation | Foundation for Angelman Syndrome Therapeutics | International Rett Syndrome Foundation (#3106) | Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54HD083211) | National Institute on Deafness and Other Communication Disorders (T35DC008763) | National Center for Advancing Translational Sciences (UL1TR000445)

Authors: Alexandra P. Key, Dorita Jones, Sarika Peters, Caitlin Dold

Early Origin and Evolution of the Angelman Syndrome Ubiquitin Ligase Gene Ube3a

Journal Article published 7 Mar 2017 in Frontiers in Cellular Neuroscience volume 11

Research funded by Angelman Syndrome Foundation

Authors: Masaaki Sato

Lovastatin suppresses hyperexcitability and seizure in Angelman syndrome model

Journal Article published Feb 2018 in Neurobiology of Disease volume 110 on pages 12 to 19

Research funded by Angelman Syndrome Foundation | Korea National Institute of Health (MH098114, HD077197, MH104316)

Authors: Leeyup Chung, Alexandra L. Bey, Aaron J. Towers, Xinyu Cao, Il Hwan Kim, Yong-hui Jiang

Subcellular organization of UBE3A in neurons

Journal Article published 11 Jul 2016 in Journal of Comparative Neurology volume 525 issue 2 on pages 233 to 251

Research funded by Simons Foundation (SFARI Award 274426) | National Institute of Mental Health (R01MH093372) | Brain and Behavior Research Foundation | Angelman Syndrome Foundation | National Institute of Neurological Disorders and Stroke (R01NS085093, RO1NS039444)

Authors: Alain C. Burette, Matthew C. Judson, Susan Burette, Kristen D. Phend, Benjamin D. Philpot, Richard J. Weinberg

Activity-Dependent Arc Expression and Homeostatic Synaptic Plasticity Are Altered in Neurons from a Mouse Model of Angelman Syndrome

Journal Article published 28 Jul 2017 in Frontiers in Molecular Neuroscience volume 10

Research funded by Angelman Syndrome Foundation (R00 NS076364) | Eunice Kennedy Shriver National Institute of Child Health and Human Development (T32 HD00749117)

Authors: Elissa D. Pastuzyn, Jason D. Shepherd

Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome

Journal Article published 17 Aug 2018 in Molecular Autism volume 9 issue 1

Research funded by National Institute of Neurological Disorders and Stroke (R01NS085093) | Angelman Syndrome Foundation | National Institutes of Health (P30CA023168) | National Cancer Institute (Z01-BC006161)

Authors: Hyeong-Min Lee, Ellen P. Clark, M. Bram Kuijer, Mark Cushman, Yves Pommier, Benjamin D. Philpot