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Auteur L. FRANCO |
Documents disponibles écrits par cet auteur (1)
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Angelman syndrome: advancing the research frontier of neurodevelopmental disorders / B. D. PHILPOT in Journal of Neurodevelopmental Disorders, 3-1 (March 2011)
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Titre : Angelman syndrome: advancing the research frontier of neurodevelopmental disorders Type de document : Texte imprimé et/ou numérique Auteurs : B. D. PHILPOT, Auteur ; Charlotte E. THOMPSON, Auteur ; L. FRANCO, Auteur ; C. A. WILLIAMS, Auteur Article en page(s) : p.50-6 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, seizures, and ataxia. These core symptoms are caused by maternal allele disruptions of a single gene-UBE3A. UBE3A encodes an E3 ubiquitin ligase that targets certain proteins for proteasomal degradation. This biology has led to the expectation that the identification of Ube3a protein targets will lead to therapies for Angelman syndrome. The recent discovery of Ube3a substrates such as Arc (activity-regulated cytoskeletal protein) provides new insight into the mechanisms underlying the synaptic function and plasticity deficits caused by the loss of Ube3a. In addition to identifying Ube3a substrates, there have also been recent advances in understanding UBE3A's integrated role in the neuronal repertoire of genes and protein interactions. A developmental picture is now emerging whereby UBE3A gene dosage on chromosome 15 alters synaptic function, with deficiencies leading to Angelman syndrome and overexpression associated with classic autism symptomatology. En ligne : http://dx.doi.org/10.1007/s11689-010-9066-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343
in Journal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.50-6[article] Angelman syndrome: advancing the research frontier of neurodevelopmental disorders [Texte imprimé et/ou numérique] / B. D. PHILPOT, Auteur ; Charlotte E. THOMPSON, Auteur ; L. FRANCO, Auteur ; C. A. WILLIAMS, Auteur . - p.50-6.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.50-6
Index. décimale : PER Périodiques Résumé : This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, seizures, and ataxia. These core symptoms are caused by maternal allele disruptions of a single gene-UBE3A. UBE3A encodes an E3 ubiquitin ligase that targets certain proteins for proteasomal degradation. This biology has led to the expectation that the identification of Ube3a protein targets will lead to therapies for Angelman syndrome. The recent discovery of Ube3a substrates such as Arc (activity-regulated cytoskeletal protein) provides new insight into the mechanisms underlying the synaptic function and plasticity deficits caused by the loss of Ube3a. In addition to identifying Ube3a substrates, there have also been recent advances in understanding UBE3A's integrated role in the neuronal repertoire of genes and protein interactions. A developmental picture is now emerging whereby UBE3A gene dosage on chromosome 15 alters synaptic function, with deficiencies leading to Angelman syndrome and overexpression associated with classic autism symptomatology. En ligne : http://dx.doi.org/10.1007/s11689-010-9066-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343