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Wiener Medizinische Wochenschrift
Erschienen in:

01.06.2017 | main topic

Pharmacological therapies for Angelman syndrome

verfasst von: Wen-Hann Tan, Lynne M. Bird, MD

Erschienen in: Wiener Medizinische Wochenschrift | Ausgabe 9-10/2017

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Summary

Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism involving an antisense transcript (UBE3A-AS). We reviewed the published information on clinical trials that have been completed as well as the publicly available information on ongoing trials of therapies for AS. Attempts at hypermethylating the maternal locus through dietary compounds were ineffective. The results of a clinical trial using minocycline as a matrix metalloproteinase-9 inhibitor were inconclusive; another clinical trial is underway. Findings from a clinical trial using L-dopa to alter phosphorylation of calcium/calmodulin-dependent kinase II are awaited. Topoisomerase inhibitors and antisense oligonucleotides are being developed to directly inhibit UBE3A-AS. Other strategies targeting specific pathways are briefly discussed. We also reviewed the medications that are currently used to treat seizures and sleep disturbances, which are two of the more debilitating manifestations of AS.
Vorheriger Artikel Orphan diseases: state of the drug discovery art
Nächster Artikel Therapeutic strategies in adrenoleukodystrophy
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Metadaten
Titel
Pharmacological therapies for Angelman syndrome
verfasst von
Wen-Hann Tan
Lynne M. Bird, MD
Publikationsdatum
01.06.2017
Verlag
Springer Vienna
Erschienen in
Wiener Medizinische Wochenschrift / Ausgabe 9-10/2017
Print ISSN: 0043-5341
Elektronische ISSN: 1563-258X
DOI
https://doi.org/10.1007/s10354-015-0408-z

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