{"id":4396,"date":"2020-10-31T13:01:44","date_gmt":"2020-10-31T12:01:44","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4396"},"modified":"2025-12-12T16:56:15","modified_gmt":"2025-12-12T15:56:15","slug":"angelman-syndroom","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/angelman-syndroom\/","title":{"rendered":"Angelman Syndrome"},"content":{"rendered":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section tab_id=”1588325715276-80d12435-d6f0″ title=”Publicaties Angelman Syndroom”][vc_column_text]Halpin S, et al. (2025). Advancing observer-reported outcome measurement: development of the MOOD-AS for observing distress in Angelman syndrome<\/strong>.\u00a0JPRO<\/em>, Pubmed<\/a><\/p>\n

Ten Hooven-Radstaake M, et al. (2025). Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome<\/strong>.\u00a0JIDR<\/em>,\u00a0Pubmed<\/a> <\/em><\/p>\n

Loix M, et al. (2025). UBE3A promotes foam cell formation and counters remyelination by targeting ABCA1 for proteasomal degradation.<\/strong> Commun. <\/em>,\u00a0Pubmed<\/a> <\/em><\/p>\n

Milazzo C, et al. (2025). UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.<\/strong> Autism<\/em>,\u00a0Pubmed<\/a> <\/em><\/p>\n

Hipp JF, et al. (2025). The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.<\/strong>Nat med <\/em>,\u00a0Pubmed<\/em><\/a><\/p>\n

Navis C, et al. (2025). Language comprehension assessment using the computer-based instrument for low motor language testing (C-BiLLT) in children with Angelman syndrome<\/strong>.\u00a0Augmentative and alternative communication<\/em>, Pubmed<\/a><\/p>\n

van Esbroeck ACM, et al. (2025). Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.<\/strong> Mol. Genet.<\/em>,\u00a0Pubmed<\/a> <\/em><\/p>\n

Hagenaar DA, et al. (2025). Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome<\/strong>. Autism res.<\/em>, Pubmed<\/a><\/p>\n

Lubbers K, et al. (2024). Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1. <\/strong> Autism Dev. Disord.,<\/em> Pubmed<\/a><\/p>\n

Lecoquierre F, et.al. (2024) A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.<\/strong> Genet Med.<\/em> Pubmed<\/a><\/span><\/p>\n

Hagenaar DA, et.al. (2024) Outcome measures in Angelman syndrome.<\/strong> J Neurodev Disord.\u00a0<\/em>Pubmed<\/a><\/span><\/p>\n

Hagenaar DA, et.al. (2023) Child characteristics associated with child quality of life and parenting stress in Angelman syndrome.<\/strong> J Intellect Disabil Res<\/em>. Pubmed<\/a><\/span><\/p>\n

Bindels-de Heus KGCB, et.al. (2023) Bone health in children with Angelman syndrome at the ENCORE Expertise Center<\/strong>. Eur J Pediatr.<\/em> Pubmed<\/a><\/span><\/p>\n

Bindels-de Heus KGCB, et.al. (2023) Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.<\/strong> J Clin Med.<\/em> Pubmed<\/a><\/span><\/p>\n

Keary C, et.al. (2023) Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study.<\/strong> Eur J Paediatr Neurol.<\/em> Aug 1;47:6-12. Pubmed<\/a><\/span><\/p>\n

Rotaru DC, et.al. (2023). UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation.<\/strong> JCI Insight<\/em>. Feb 22;8(4):e166073. Pubmed<\/a><\/span><\/p>\n

Bindels-deHeus KGCB, et.al. (2023) Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program. <\/strong>Res Dev Disabil<\/em>. Feb 6;135:104444. Pubmed<\/a><\/span><\/p>\n

Viho EMG, et.al. (2022) The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome<\/strong>. Int J Mol Sci. <\/em>Dec 24;24(1):303. Pubmed<\/a><\/span><\/p>\n

Tanas JK, et.al. (2022) Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome. <\/strong> Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

Lubbers K, et.al. (2022) Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison.<\/strong> Front Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

Zampeta FI, Distel B, Elgersma Y, Iping R. (2022) From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research.<\/strong> Hum Genet. <\/em>Pubmed<\/a><\/span><\/p>\n

Pandya NJ, et.al. (2022) A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets. <\/strong>Mol Psychiatry. <\/em>Pubmed<\/a><\/span><\/p>\n

Duis J, et.al. (2022) A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.<\/strong> Mol Genet Genomic Med<\/em>. e1843\u00a0Pubmed<\/a><\/span><\/p>\n

Judson MC, el.al. (2021) Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice.<\/strong> JCI Insight<\/em> 6(20):e144712. Pubmed<\/a><\/span><\/p>\n

Pandya NJ, et.al. (2021) Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.<\/strong> Cell Rep Med.<\/em> 2(8):100360. Pubmed<\/a><\/span><\/p>\n

Milazzo C, Mientjes EJ, et.al. (2021) Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model.<\/strong> JCI Insight<\/em> Aug 9;6(15):145991. Pubmed<\/a><\/span><\/p>\n

Bossuyt S, et.al. (2021) Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. <\/strong>Hum Mol Genet<\/em>. Pubmed<\/a><\/span><\/p>\n

Elgersma Y & Sonzogni M. (2021) UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome. <\/strong>Dev Med Child Neurol. <\/em>Pubmed<\/a><\/span><\/p>\n

Avagliano Trezza T, et.al. (2021) Mono-ubiquitination of Rhabphilin 3A by UBE3A serves a non-degradative function. <\/strong>Sci Rep. <\/em>11(1):3007. Pubmed<\/a><\/span><\/p>\n

Den Besten I, et.al. <\/em>(2020) Clinical aspects of a large group of adults with Angelman syndrome. <\/strong>Am J Med Genet A. <\/em>Pubmed<\/span><\/a><\/p>\n

Sonzogni M, et.al.<\/em> (2020) Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome. <\/strong>Mol Autism. <\/em>11(1):70. Pubmed<\/span><\/a><\/p>\n

Geerts-Haages A, et.al.<\/em> (2020) A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome. <\/strong>Mol Genet Genomic Med. <\/em>Pubmed<\/span><\/a><\/p>\n

Zampeta IF, et.al. <\/em>(2020) Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms. <\/strong>Hum Mol Genet.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Bindels-de Heus KGCB, et al.<\/em> (2020) An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.<\/strong> Am J Med Genet A<\/em>. 182:53\u201363. Pubmed<\/span><\/a><\/p>\n

Rotaru DC et.al.<\/em> (2020) Angelman Syndrome: From Mouse Models to Therapy.<\/strong> Neuroscience<\/em>. 4522:30103-2 . Pubmed<\/span><\/a><\/p>\n

Sonzogni M, et al.<\/em> (2019) Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes.<\/strong> Mol Autism.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Tonazzini I, et.al. <\/em>(2019) The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons.<\/strong> Mol Autism.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Avagliano Trezza R, et al<\/em>. (2019) Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome.<\/strong> Nat Neurosci.<\/em> 22; 1235\u201347. Pubmed<\/span><\/a><\/p>\n

Wang T, et.al. <\/em>(2018) Enhanced transmission at the calyx of held synapse in a mouse model for angelman syndrome.<\/strong> Front Cell Neurosci.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Rotaru DC, et.al.<\/em> (2018) Adult Ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of angelman syndrome.<\/strong> J Neurosci.<\/em> 38; 8011\u201330. Pubmed<\/span><\/a><\/p>\n

Sonzogni M, et.al.<\/em> (2018) A behavioral test battery for mouse models of Angelman syndrome: A powerful tool for testing drugs and novel Ube3a mutants. <\/strong>Mol Autism. 14; 9-47.\u00a0<\/em>Pubmed<\/span><\/a><\/p>\n

Judson MCC, et al.<\/em> (2016) GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility.<\/strong> Neuron.<\/em> 90; 56\u201369. Pubmed<\/span><\/a><\/p>\n

Tonazzini I, et.al<\/em>. (2016) Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates.<\/strong> Adv Healthc Mater<\/em> 5; 850\u201362. Pubmed<\/span><\/a><\/p>\n

Elgersma Y. (2015) Neurodevelopmental disease: A molecular tightrope.<\/strong> Nature<\/em> 526; 50\u20131. Pubmed<\/span><\/a><\/p>\n

Silva-Santos S, et.al.<\/em> (2015) Ube3a reinstatement identifies distinct developmental windows in a murine Angelman Syndrome model. <\/strong>J Clin Invest. <\/em>125; 2069-76. Pubmed<\/span><\/a><\/p>\n

Steinkellner, T. et al.<\/em> (2012) Ca(2+)\/calmodulin-dependent protein kinase II\u03b1 (\u03b1CaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome.<\/strong> J Biol Chem<\/em> 287, 29627\u201329635. Pubmed<\/span><\/a><\/p>\n

van Woerden, G.M. et al.<\/em> (2007) Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.<\/strong> Nat Neurosci<\/em> 10, 280\u2013282. Pubmed<\/span><\/a><\/p>\n

Elgersma, Y. (2007) Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome.<\/strong> Pharmacogenomics<\/em> 8, 539\u2013541. Pubmed<\/span><\/a><\/p>\n

van den Ouweland, A.M. et al.<\/em> (1999) Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene.<\/strong> J Med Genet<\/em> 36, 723\u2013724. Pubmed<\/span><\/a><\/p>\n

Fang, P. et al.<\/em> (1999) The spectrum of mutations in UBE3A causing Angelman syndrome.<\/strong> Hum Mol Genet<\/em> 8, 129\u2013135. Pubmed<\/span><\/a><\/p>\n

Buiting, K. et al.<\/em> (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. <\/strong>Am J Hum Genet<\/em> 63, 170\u2013180. Pubmed<\/span><\/a><\/p>\n

Horsthemke, B. et al.<\/em> (1996) Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. <\/strong>J Med Genet<\/em> 33, 848\u2013851. Pubmed<\/span><\/a><\/p>\n

van den Ouweland, A.M. et al.<\/em> (1995) DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).<\/strong> Hum Genet<\/em> 95, 562\u2013567. Pubmed<\/a><\/span>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"

[vc_row][vc_column][vc_tta_accordion][vc_tta_section tab_id=”1588325715276-80d12435-d6f0″ title=”Publicaties Angelman Syndroom”][vc_column_text]Halpin S, et al. (2025). Advancing observer-reported outcome measurement: development of the MOOD-AS for observing distress in Angelman syndrome.\u00a0JPRO, Pubmed Ten Hooven-Radstaake M, et al. (2025). Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome.\u00a0JIDR,\u00a0Pubmed Loix M, et al. (2025). UBE3A promotes foam cell formation […]<\/p>","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4396"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4396"}],"version-history":[{"count":25,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4396\/revisions"}],"predecessor-version":[{"id":5372,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4396\/revisions\/5372"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4396"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}