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Page 1
Molecular and behavioral consequences of Ube3a gene overdosage in mice.
Punt AM, Judson MC, Sidorov MS, Williams BN, Johnson NS, Belder S, den Hertog D, Davis CR, Feygin MS, Lang PF, Jolfaei MA, Curran PJ, van IJcken WF, Elgersma Y, Philpot BD. Punt AM, et al. JCI Insight. 2022 Sep 22;7(18):e158953. doi: 10.1172/jci.insight.158953. JCI Insight. 2022. PMID: 36134658 Free PMC article.
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function.
Avagliano Trezza R, Punt AM, Mientjes E, van den Berg M, Zampeta FI, de Graaf IJ, van der Weegen Y, Demmers JAA, Elgersma Y, Distel B. Avagliano Trezza R, et al. Among authors: punt am. Sci Rep. 2021 Feb 4;11(1):3007. doi: 10.1038/s41598-021-82319-9. Sci Rep. 2021. PMID: 33542309 Free PMC article.
A Comprehensive Analysis of the Erythropoietin-erythroferrone-hepcidin Pathway in Hereditary Hemolytic Anemias.
van Vuren AJ, Sharfo A, Grootendorst ST, van Straaten S, Punt AM, Petersen JB, El Fassi D, van Solinge WW, Bartels M, van Wijk R, Glenthøj A, van Beers EJ. van Vuren AJ, et al. Among authors: punt am. Hemasphere. 2021 Aug 11;5(9):e627. doi: 10.1097/HS9.0000000000000627. eCollection 2021 Sep. Hemasphere. 2021. PMID: 34396049 Free PMC article. No abstract available.
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology.
Pandya NJ, Wang C, Costa V, Lopatta P, Meier S, Zampeta FI, Punt AM, Mientjes E, Grossen P, Distler T, Tzouros M, Martí Y, Banfai B, Patsch C, Rasmussen S, Hoener M, Berrera M, Kremer T, Dunkley T, Ebeling M, Distel B, Elgersma Y, Jagasia R. Pandya NJ, et al. Among authors: punt am. Cell Rep Med. 2021 Aug 17;2(8):100360. doi: 10.1016/j.xcrm.2021.100360. eCollection 2021 Aug 17. Cell Rep Med. 2021. PMID: 34467244 Free PMC article.
22 results