Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology

Angelman syndrome (AS) is a neurodevelopmental disorder caused by the loss of maternal UBE3A, a ubiquitin protein ligase E3A. Here, we study neurons derived from patients with AS and neurotypical individuals, and reciprocally modulate UBE3A using antisense oligonucleotides. Unbiased proteomics revea...

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Veröffentlicht in:	Cell reports. Medicine 2021-08, Vol.2 (8), p.100360-100360, Article 100360
Hauptverfasser:	Pandya, Nikhil J., Wang, Congwei, Costa, Veronica, Lopatta, Paul, Meier, Sonja, Zampeta, F. Isabella, Punt, A. Mattijs, Mientjes, Edwin, Grossen, Philip, Distler, Tania, Tzouros, Manuel, Martí, Yasmina, Banfai, Balazs, Patsch, Christoph, Rasmussen, Soren, Hoener, Marius, Berrera, Marco, Kremer, Thomas, Dunkley, Tom, Ebeling, Martin, Distel, Ben, Elgersma, Ype, Jagasia, Ravi
Format:	Artikel
Sprache:	eng
Schlagworte:	Angelman syndrome Angelman Syndrome - metabolism Angelman Syndrome - physiopathology Animals Apoptosis Regulatory Proteins - metabolism Cell Biology Cell Movement Child, Preschool DNA-Binding Proteins - metabolism extracellular vesicles Extracellular Vesicles - metabolism Extracellular Vesicles - ultrastructure Female Gene Products, gag - chemistry hiPSC neurons Humans Induced Pluripotent Stem Cells - pathology Life Sciences & Biomedicine Male Medicine, Research & Experimental Mice Mice, Inbred C57BL Neurons - metabolism Neurons - pathology PEG10 Proteasome Endopeptidase Complex - metabolism Protein Domains Research & Experimental Medicine Retroelements - genetics retroviral GAG Retroviridae - metabolism RNA-binding protein RNA-Binding Proteins - metabolism Science & Technology stress granules Stress Granules - metabolism Stress Granules - ultrastructure Transcriptome - genetics UBE3A Ubiquitin-Protein Ligases - metabolism
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