Angelman Syndroom

Lecoquierre F, (2024) A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder. Genet Med. Pubmed

Hagenaar DA, (2024) Outcome measures in Angelman syndrome. J Neurodev Disord. Pubmed

Hagenaar DA, (2023) Child characteristics associated with child quality of life and parenting stress in Angelman syndrome. J Intellect Disabil Res. Pubmed

Bindels-de Heus KGCB, (2023) Bone health in children with Angelman syndrome at the ENCORE Expertise Center. Eur J Pediatr. Pubmed

Bindels-de Heus KGCB, (2023) Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome. J Clin Med. Pubmed

Keary C, (2023) Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study. Eur J Paediatr Neurol. Aug 1;47:6-12. Pubmed

Rotaru DC, (2023). UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation. JCI Insight. Feb 22;8(4):e166073. Pubmed

Bindels-deHeus KGCB, (2023) Sleep problems in children with Angelman Syndrome: The effect of a behavioral intervention program. Res Dev Disabil. Feb 6;135:104444. Pubmed

Viho EMG, (2022) The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome. Int J Mol Sci. Dec 24;24(1):303. Pubmed

Tanas JK, (2022) Multidimensional analysis of behavior predicts genotype with high accuracy in a mouse model of Angelman syndrome. Psychiatry. Pubmed

Lubbers K, (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. Front Psychiatry. Pubmed

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. Hum Genet. Pubmed

Pandya NJ, (2022) A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets. Mol Psychiatry. Pubmed

Duis J, (2022) A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. e1843 Pubmed

Judson MC, (2021) Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice. JCI Insight 6(20):e144712. Pubmed

Pandya NJ, (2021) Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology. Cell Rep Med. 2(8):100360. Pubmed

Milazzo C, Mientjes EJ, (2021) Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model. JCI Insight Aug 9;6(15):145991. Pubmed

Bossuyt S, (2021) Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations. Hum Mol Genet. Pubmed

Elgersma Y & Sonzogni M. (2021) UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome. Dev Med Child Neurol. Pubmed

Avagliano Trezza T, (2021) Mono-ubiquitination of Rhabphilin 3A by UBE3A serves a non-degradative function. Sci Rep. 11(1):3007. Pubmed

Den Besten I, (2020) Clinical aspects of a large group of adults with Angelman syndrome. Am J Med Genet A. Pubmed

Sonzogni M, (2020) Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome. Mol Autism. 11(1):70. Pubmed

Geerts-Haages A, (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. Mol Genet Genomic Med. Pubmed

Zampeta IF, (2020) Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms. Hum Mol Genet. Pubmed

Bindels-de Heus KGCB, et al. (2020) An overview of health issues and development in a large clinical cohort of children with Angelman syndrome. Am J Med Genet A. 182:53–63. Pubmed

Rotaru DC (2020) Angelman Syndrome: From Mouse Models to Therapy. Neuroscience. 4522:30103-2 . Pubmed

Sonzogni M, et al. (2019) Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes. Mol Autism. Pubmed

Tonazzini I, (2019) The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons. Mol Autism. Pubmed

Avagliano Trezza R, et al. (2019) Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome. Nat Neurosci. 22; 1235–47. Pubmed

Wang T, (2018) Enhanced transmission at the calyx of held synapse in a mouse model for angelman syndrome. Front Cell Neurosci. Pubmed

Rotaru DC, (2018) Adult Ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of angelman syndrome. J Neurosci. 38; 8011–30. Pubmed

Sonzogni M, (2018) A behavioral test battery for mouse models of Angelman syndrome: A powerful tool for testing drugs and novel Ube3a mutants. Mol Autism. 14; 9-47. Pubmed

Judson MCC, et al. (2016) GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility. Neuron. 90; 56–69. Pubmed

Tonazzini I, (2016) Impaired Neurite Contact Guidance in Ubiquitin Ligase E3a (Ube3a)-Deficient Hippocampal Neurons on Nanostructured Substrates. Adv Healthc Mater 5; 850–62. Pubmed

Elgersma Y. (2015) Neurodevelopmental disease: A molecular tightrope. Nature 526; 50–1. Pubmed

Silva-Santos S, (2015) Ube3a reinstatement identifies distinct developmental windows in a murine Angelman Syndrome model. J Clin Invest. 125; 2069-76. Pubmed

Steinkellner, T. et al. (2012) Ca(2+)/calmodulin-dependent protein kinase IIα (αCaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome. J Biol Chem 287, 29627–29635. Pubmed

van Woerden, G.M. et al. (2007) Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat Neurosci 10, 280–282. Pubmed

Elgersma, Y. (2007) Genetic engineering cures mice of neurological deficits: prospects for treating Angelman syndrome. Pharmacogenomics 8, 539–541. Pubmed

van den Ouweland, A.M. et al. (1999) Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene. J Med Genet 36, 723–724. Pubmed

Fang, P. et al. (1999) The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8, 129–135. Pubmed

Buiting, K. et al. (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 63, 170–180. Pubmed

Horsthemke, B. et al. (1996) Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome. J Med Genet 33, 848–851. Pubmed

van den Ouweland, A.M. et al. (1995) DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet 95, 562–567. Pubmed