Voor het Angelman Syndroom

folder Research Articles

Below you will find a database containing Research Articles on the Angelman Syndrome/

We try to keep it as much up to date as possible. This is done with a team of people who search the internet or contact researches to ask for permission to post their articles. The articles are placed in their original language, most of the time English.


pdf Regulation of turnover of tumor suppressor p53 and cell growth Populair

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Regulation of turnover of tumor suppressor p53 and cell growth by E6-AP, a ubiquitin protein ligase mutated in Angelman mental retardation syndrome

A. Mishra and N. R. Jana*

Cellular and Molecular Neuroscience Laboratory, National Brain Research Centre,Manesar, Gurgaon 122 050, (India)

pdf Relationship between severity of epilepsy and developmental outcome in Angelman syndrome Populair

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Ohtsuka et al.pdf

Relationship between severity of epilepsy and developmental outcome in Angelman syndrome

Yoko Ohtsuka et al

Brain & Development
27 (2005) 95-100

pdf Resc. of neurolog. deficits in a mouse model f. AS by reduct. of aCaMKII inhibitory phosphorylation Populair

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07 Van Woerden Nat Neur.pdf

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of aCaMKII inhibitory phosphorylation


This article also has been translated into non scientific language in the section Nina's Journal club

pdf Screening for UBE3Agene mutat. in a group of AS patients selected acc. to non-stringent clin. crit. Populair

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Screening for UBE3Agene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria

Baumer, Alessandra,  et al.

Human Genetics

(1999) 105 : 598 & 602

pdf Self-management treatment of drooling: A case series Populair

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Van der Burg JJW 2009 J Behav Ther Exp Psychiat 40-106.pdf

J.J.W. Van der Burg ,R. Didden, N. Engbers, P.H. Jongerius, J.J. Rotteveel

J. Behav. Ther. & Exp. Psychiat. 40 (2009) 106?119

Behavioral treatment of drooling is advocated widely, but evidence
of its effectiveness is lacking. In a center-based case-series study,
10 participants with severe drooling were taught self-management
skills to reduce drooling. Following treatment, all participants
remained dry for intervals of 30?60 min, while being engaged in
daily activities. Generalization to the classroom occurred in each
participant. For three participants, maintenance of treatment effect
was established at 6 and 24 weeks. Seven participants failed to
maintain self-management skills at follow-up. Although the selfmanagement
procedure showed promising results, further
adaptations are required to improve efficacy, generalization, and

pdf SLC9A6 Mutations Cause X-Linked Ment. Retard.,Microcephaly, Epil. & Ataxia, a Phenotype Mimicking AS Populair

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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Gilfillan et al.

The American Journal of Human Genetics (2008), doi:10.1016/j.ajhg.2008.01.013

pdf Sleep disturbances in Angelman syndrome: a questionnaire study Populair

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Sleep disturbances in Angelman syndrome: a questionnaire study

Bruni, Oliviero et al.

Brain & Development

26 (2004) 233-240

pdf SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome Populair

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Transcript levels.pdf

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Maren Runte et al

Human Genetics
114 : 553-561

pdf Somatic mosaicism in patients with Angelman syndrome and an imprinting defect Populair

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Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

Hülya Nazlican et al

Human Molecular Genetics
2004, Vol. 13, No. 21

pdf The AS-associated ubiquitin ligase Ube3A regulates synapse development by ubiquitinating Arc Populair

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Greer PL 2010 Cell 140-704.pdf

Angelman Syndrome is a debilitating neurological disorder caused by mutation of the E3 ubiquitin ligase Ube3A, a gene whose mutation has also recently been associated with autism spectrum disorders (ASDs). The function of Ube3A during nervous system development and how Ube3A mutations give rise to cognitive impairment in individuals with Angleman Syndrome and ASDs are not clear. We report here that experience-driven neuronal activity induces Ube3A transcription and that Ube3A then regulates excitatory synapse development by controlling the degradation of Arc, a synaptic protein that promotes the internalization of the AMPA subtype of glutamate receptors. We find that disruption of Ube3A function in neurons leads to an increase in Arc expression and a concomitant decrease in the number of AMPA receptors at excitatory synapses. We propose that this deregulation of AMPA receptor expression at synapses may contribute to the cognitive dysfunction that occurs in Angelman Syndrome and possibly other ASDs.

Paul L. Greer, Rikinari Hanayama, Brenda L. Bloodgood, Alan R. Mardinly, David M. Lipton, Steven W. Flavell, Tae-Kyung Kim, Eric C. Griffith, Zachary Waldon, Rene Maehr, Hidde L. Ploegh, Shoaib Chowdhury, Paul F. Worley, Judith Steen, Michael E. Greenberg 

Cell 140, 704?716, March 5, 2010 ª2010 Elsevier In

pdf The ubiquitin ligase E6-AP Populair

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the ubiquitin ligase e6-ap.pdf

The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of HSP70 bound misfolded proteins. Mishra A, Godavarthi SK, Maheshwari M, Goswami A, Jana NR. J Biol Chem. 2009 Feb 20

pdf Tissue-specific variation of Ube3a protein expression in rodents and in a mousemodel of AS Populair

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Gustin RM 2010 Neurobiol Dis 39-283.pdf

Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression ormutation-induced dysfunction of its protein product, the E3 ubiquitin?protein ligase, UBE3A. In humans androdents, UBE3A/Ube3a transcript is maternally imprinted in several brain regions, but the distribution ofnative UBE3A/Ube3a1 protein expression has not been comprehensively examined. To address this, wesystematically evaluated Ube3a expression in the brain and peripheral tissues of wild-type (WT) and Ube3amaternal knockout mice (AS mice). Immunoblot and immunohistochemical analyses revealed a marked lossof Ube3a protein in hippocampus, hypothalamus, olfactory bulb, cerebral cortex, striatum, thalamus,midbrain, and cerebellum in AS mice relative to WT littermates. Also, Ube3a expression in heart and liver ofAS mice showed greater than the predicted 50% reduction relative to WT mice. Co-localization studiesshowed Ube3a expression to be primarily neuronal in all brain regions and present in GABAergicinterneurons as well as principal neurons. These findings suggest that neuronal function throughout thebrain is compromised in AS.

Richard Gustin, Terry Jo Bichell, Michael Bubser, Jennifer Daily, Irina Filonova, Davit Mrelashvili, Ariel Y. Deutch, Roger J. Colbran, Edwin J. Weeber, Kevin F. Haas

Neurobiology of Disease 39 (2010) 283?291

pdf Towards a Molecular Understanding of Prader-Willi & Angelman Syndromes Populair

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Towards a Molecular Understanding of Prader-Willi & Angelman Syndromes

Melissa Mann & Marisa Bartolomei

Human Molecular Genetics,1999, Vol. 8, No. 109 Review

pdf Two percent of patients suspected of having Angelman syndrome have TCF4 mutations Populair

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Takano K 2010 Clin Genet e-pub.pdf

The TCF4 gene encodes a basic helix?loop?helix (bHLH) transcription
factor which belongs to the family of E-proteins. E-proteins form homoand
heterodimers with other members of the HLH family and bind to the
common DNA sequence called E-box. Haploinsufficiency of the TCF4
gene has been found to be associated with the Pitt?Hopkins syndrome
(PTHS). PTHS is characterized by severe mental retardation, a wide
mouth plus other distinctive facial features (fleshy lips, beaked nose, broad
nasal bridge) and breathing abnormalities. Because of some phenotypical
overlap with Angelman syndrome (AS), it has been suggested that PTHS
be considered in its differential diagnosis. To explore this possibility, we
screened 86 patients who were suspected of having AS. All the patients
were negative for UBE3A testing, and 53 were known to be negative for
methylation analysis. We identified two TCF4 mutations in this cohort.
The p.S384Tfsx7 mutation lacks the bHLH domain. The p.R582P
mutation lies within the bHLH domain in which seven other missense
mutations have been reported. Both mutations most likely affect the
critical function of the bHLH domain of the TCF4 protein. In summary,
we found two TCF4 mutations in 86 patients (2%) suspected to have AS.
Screening for mutations in this gene should be considered in patients who
present with findings of AS but who have been negative for methylation
and UBE3A testing.
Takano K, Lyons M, Moyes C, Jones J, Schwartz CE.
Clin Genet 2010.

pdf Ube3a is required for experience-dependent maturation of neocortex Populair

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Yashiro K 2009 Nature Neurosci e-pub May 10.pdf

Ube3a is required for experience-dependent maturation of the neocortex

Koji Yashiro, Thorfinn T Riday, Kathryn H Condon, Adam C Roberts, Danilo R Bernardo, Rohit Prakash, Richard J Weinberg, Michael D Ehlers & Benjamin D Philpot

Nature Neuroscience Advance Online Publication May 10 2009

pdf Use of Enhanced Natural Gestures to Foster Interactions Between Children With AS and Their Parents Populair

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Use of Enhanced Natural Gestures to Foster Interactions Between Children With Angelman Syndrome and Their Parents

Calculator, Stephen.

American Journal of Speech Language Pathology

November 2002, Vol. 11.

pdf What would the brain look like in Angelman syndrome? Populair

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What would the brain look like in Angelman syndrome?

Dan B et al.

European Journal of Paediatric Neurology (2008), doi:10.1016/j.ejpn.2008.08.005