maandag, 01 september 2014

"Het doel van de Nina Foundation is het stimuleren van wetenschappelijk onderzoek naar de oorzaak en behandeling van het Angelman Syndroom"

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.

Documenten

Rangschik op : Naam | Datum | Hits [ Oplopend ]

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

hot!
Aanmaakdatum: 17/10/2008
Bestandsgrootte: 103.75 kB
Downloads: 758
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

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

hot!
Aanmaakdatum: 01/05/2007
Bestandsgrootte: 541.05 kB
Downloads: 542
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.

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

hot!
Aanmaakdatum: 21/05/2009
Bestandsgrootte: 1.37 MB
Downloads: 592
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

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

hot!
Aanmaakdatum: 05/03/2010
Bestandsgrootte: 740.61 kB
Downloads: 795
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.

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

hot!
Aanmaakdatum: 01/05/2007
Bestandsgrootte: 358.8 kB
Downloads: 499
Towards a Molecular Understanding of Prader-Willi & Angelman Syndromes

Melissa Mann & Marisa Bartolomei

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

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

hot!
Aanmaakdatum: 03/08/2010
Bestandsgrootte: 1.62 MB
Downloads: 726

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

The ubiquitin ligase E6-AP The ubiquitin ligase E6-AP

hot!
Aanmaakdatum: 25/02/2009
Bestandsgrootte: 840.43 kB
Downloads: 617

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

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

hot!
Aanmaakdatum: 10/03/2010
Bestandsgrootte: 994.03 kB
Downloads: 680
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

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

hot!
Aanmaakdatum: 01/05/2007
Bestandsgrootte: 224.6 kB
Downloads: 471
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect


Hülya Nazlican et al

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

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

hot!
Aanmaakdatum: 05/05/2007
Bestandsgrootte: 430.99 kB
Downloads: 673
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

Maren Runte et al

Human Genetics
114 : 553-561
Pagina 1 van 10
twitterNF facebookNFlinkedinNFrssNF

Donaties

Expertise Centrum

Er zijn al:

52

Angelman kinderen op bezoek geweest
 en ingeschreven in het Expertisecentrum

Kids in Actie

Kids in Actie

Bankgegevens Nina Foundation

1291.59.220, Rabobank te Rotterdam

LizevaLogo2009aangepast
  alphamegahosting  
overlevingsfonds