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Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.

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Title: Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
Authors: van Esbroeck ACM; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands., Verhagen RFM; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands., Biagioni M; IRCCS Humanitas Research Hospital, Via Manzoni 56, Rozzano, Milan 20089, Italy., Fossati M; IRCCS Humanitas Research Hospital, Via Manzoni 56, Rozzano, Milan 20089, Italy.; CNR Institute of Neuroscience, section of Milan, Via Manzoni 56, Rozzano 20089 Milan, Italy., Distel B; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands., Elgersma Y; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.
Source: Human molecular genetics [Hum Mol Genet] 2025 Jun 04; Vol. 34 (12), pp. 1009-1016.
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
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  Data: <searchLink fieldCode="AU" term="%22van+Esbroeck+ACM%22">van Esbroeck ACM</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Verhagen+RFM%22">Verhagen RFM</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Biagioni+M%22">Biagioni M</searchLink>; IRCCS Humanitas Research Hospital, Via Manzoni 56, Rozzano, Milan 20089, Italy.<br /><searchLink fieldCode="AU" term="%22Fossati+M%22">Fossati M</searchLink>; IRCCS Humanitas Research Hospital, Via Manzoni 56, Rozzano, Milan 20089, Italy.; CNR Institute of Neuroscience, section of Milan, Via Manzoni 56, Rozzano 20089 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Distel+B%22">Distel B</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Elgersma+Y%22">Elgersma Y</searchLink>; Department of Clinical Genetics, Erasmus MC, Rotterdam, Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.; Erasmus MC Expertise Center for Neurodevelopmental Disorders (ENCORE), Dr. Molewaterplein 40, 3015GD Rotterdam, The Netherlands.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1093/hmg/ddaf044
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        Text: English
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      – TitleFull: Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.
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              Text: 2025 Jun 04
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