Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome

Ubiquitination plays a crucial role in neurodevelopment as exemplified by Angelman syndrome, which is caused by genetic alterations of the ubiquitin ligase-encoding UBE3A gene. Although the function of UBE3A has been widely studied, little is known about its paralog UBE3B. By using exome and capilla...

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Veröffentlicht in:	American journal of human genetics 2012-12, Vol.91 (6), p.998-1010
Hauptverfasser:	Basel-Vanagaite, Lina, Dallapiccola, Bruno, Ramirez-Solis, Ramiro, Segref, Alexandra, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miró, Xavier, White, Jacqueline K., Désir, Julie, Abramowicz, Marc, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine, Ingham, Neil J., Altmüller, Janine, Nürnberg, Gudrun, Frommolt, Peter, Abdelhak, Sonia, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nürnberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten, Kubisch, Christian, Adams, David J., Borck, Guntram
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Animals Base Sequence Biological and medical sciences Blepharophimosis - diagnosis Blepharophimosis - genetics Blepharoptosis - diagnosis Blepharoptosis - genetics Brain Brain - pathology Caenorhabditis elegans Caenorhabditis elegans - genetics Caenorhabditis elegans - metabolism Central Nervous System Child Child, Preschool Cholesterol Data processing Diseases of eyelid, conjunctiva and lacrimal tracts Exome Facies Female Fundamental and applied biological sciences. Psychology Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Genotype Growth rate Head Humans Infant Intellectual Disability - diagnosis Intellectual Disability - genetics Life Sciences Magnetic Resonance Imaging Male Medical genetics Medical sciences Mice Mice, Knockout Molecular and cellular biology Mutation Neurodegeneration Neurology Ophthalmology Oxidative Stress proteasomes Proteins Rodents Syndrome Ubiquitin Ubiquitin-protein ligase Ubiquitin-Protein Ligases - deficiency Ubiquitin-Protein Ligases - genetics ubiquitination
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