Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Rossella, Avagliano Trezza"'
Autor:
Rossella Avagliano Trezza, A. Mattijs Punt, Edwin Mientjes, Marlene van den Berg, F. Isabella Zampeta, Ilona J. de Graaf, Yana van der Weegen, Jeroen A. A. Demmers, Ype Elgersma, Ben Distel
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by brain-specific loss of UBE3A, an E3 ubiquitin protein ligase. A substantial number of possible ubiquitination targets of UBE3A have been identified, although evidence o
Externí odkaz:
https://doaj.org/article/103b8ab37f3849878bac0c65b929ee9d
Publikováno v:
Microbial Cell, Vol 5, Iss 3, Pp 150-157 (2017)
Ubiquitination is a posttranslational protein modification that regulates most aspects of cellular life. The sheer number of ubiquitination enzymes that are present in a mammalian cell, over 700 in total, has thus far hampered the analysis of distinc
Externí odkaz:
https://doaj.org/article/483030b98fe54a73b9092dc1a22fe8c9
Autor:
Mari Rossi, Melissa K. Gabriel, Rolph Pfundt, Ange Line Bruel, Sonal Mahida, Daniel Groepper, Kristin W. Barañano, Tjitske Kleefstra, Saskia Brulleman, Charlotte de Konink, Angelika Erwin, Aida Telegrafi, Kristin Lindstrom, Amy Blevins, Marjon van Slegtenhorst, Katherine G. Langley, David A. Koolen, Geeske M. van Woerden, Anna Chassevent, Louisa Kalsner, A. Micheil Innes, Ype Elgersma, David R. FitzPatrick, Kristin G. Monaghan, Allison Goodwin, Ben Distel, Karen W. Gripp, Alice S. Brooks, Natasha Shur, Fatima Rehman, Rossella Avagliano Trezza, Amanda Noyes, Melanie Bos, Jane Juusola, Gwynna de Geus, Jennifer B. Humberson, Andrew O.M. Wilkie, Jessica Hoffman, Marleen Simon, David Johnson, Róisín McCormack, Sumit Punj, Maria J. Guillen Sacoto, Julie Fleischer, Eduardo Calpena, Arthur Sorlin, Allison Schreiber
Publikováno v:
Human Mutation, 42(4), 445-459. Wiley-Liss Inc.
Human Mutation, 42, 445-459
Human Mutation, 42, 4, pp. 445-459
Human Mutation
Human mutation, 42(4), 445-459. Wiley-Liss Inc.
Human Mutation, 42, 445-459
Human Mutation, 42, 4, pp. 445-459
Human Mutation
Human mutation, 42(4), 445-459. Wiley-Liss Inc.
Thousand and one amino‐acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen‐activated protein kinase pathways, thereby modulating a multitude of processes in the cell. Given the recent finding of TAOK1 involvement in neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd52b60cd16ed1747221a17833ce9f16
http://www.scopus.com/inward/record.url?scp=85101812177&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85101812177&partnerID=8YFLogxK
Autor:
Geeske van Woerden, Richelle Senden, Charlotte de Konink, Rossella Avagliano Trezza, anwar baban, Jennifer Bassetti, Yolande Van Bever, Lynne Bird, Bregje van Bon, Alice Brooks, Qiaoning Guan, Eric Klee, Carlo Marcelis, Joel Morales-Rosado, Lisa Schimmenti, Amy Shikany, Paulien Terhal, Kathryn Weaver, Marja Wessels, Hester van Wieringen, Anna Hurst, Catherine Gooch, Marco Tartaglia, Marcello Niceta, Ype Elgersma, Serwet Demirdas
Mitogen-Activated Protein 3 Kinase 7 (MAP3K7, MIM 602614) encodes the ubiquitously expressed transforming growth factor β (TGF-β)–activated kinase 1 (TAK1), which plays a crucial role in many cellular processes. Variants in the MAP3K7 gene have b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d071d1b505bd9fbdcafd98c20546d9e3
https://doi.org/10.22541/au.163741470.06165246/v1
https://doi.org/10.22541/au.163741470.06165246/v1
Publikováno v:
Microbial Cell
Microbial cell, 5(3), 150-157. Shared Science Publishers OG
Microbial Cell, 5(3), 150-157. Shared Science Publishers OG
Microbial Cell, Vol 5, Iss 3, Pp 150-157 (2017)
Microbial cell, 5(3), 150-157. Shared Science Publishers OG
Microbial Cell, 5(3), 150-157. Shared Science Publishers OG
Microbial Cell, Vol 5, Iss 3, Pp 150-157 (2017)
Ubiquitination is a posttranslational protein modification that regulates most aspects of cellular life. The sheer number of ubiquitination enzymes that are present in a mammalian cell, over 700 in total, has thus far hampered the analysis of distinc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07cf824b0bfa83335971b80766f6d651
http://europepmc.org/articles/PMC5826702
http://europepmc.org/articles/PMC5826702
Autor:
Linda M. C. Koene, Helen Heussler, Edwin Mientjes, Shashini T. Munshi, Femke M.S. de Vrij, Marlene van den Berg, A. Mattijs Punt, Geeske M. van Woerden, Steven A. Kushner, Diana C. Rotaru, Monica Sonzogni, Ype Elgersma, F. Isabella Zampeta, Rossella Avagliano Trezza, Stijn N V Bossuyt, Mark Williams, Jeffrey Stedehouder, Johan M. Kros, Ben Distel
Publikováno v:
Nature Neuroscience, 22(8), 1235-+. Nature Publishing Group
Nature neuroscience, 22(8), 1235-1247. Nature Publishing Group
Nature neuroscience, 22(8), 1235-1247. Nature Publishing Group
Mutations affecting the gene encoding the ubiquitin ligase UBE3A cause Angelman syndrome. Although most studies focus on the synaptic function of UBE3A, we show that UBE3A is highly enriched in the nucleus of mouse and human neurons. We found that th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f92dd77d3397c167cc98539f8243ef5
https://doi.org/10.1038/s41593-019-0425-0
https://doi.org/10.1038/s41593-019-0425-0
Autor:
Rossella Avagliano Trezza, Claire Heride, Vincenzo Sorrentino, Sylvie Urbé, Jessica K. Nelson, Ben Distel, Noam Zelcer
Publikováno v:
Circulation research, 118(3), 410-419. Lippincott Williams and Wilkins
Rationale: The low-density lipoprotein (LDL) receptor (LDLR) is a central determinant of circulating LDL-cholesterol and as such subject to tight regulation. Recent studies and genetic evidence implicate the inducible degrader of the LDLR (IDOL) as a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81cf8f8c8a4798afe202e37e36e3e53f
https://doi.org/10.1161/circresaha.115.307298
https://doi.org/10.1161/circresaha.115.307298
Autor:
Rossella, Avagliano Trezza, Monica, Sonzogni, Stijn N V, Bossuyt, F Isabella, Zampeta, A Mattijs, Punt, Marlene, van den Berg, Diana C, Rotaru, Linda M C, Koene, Shashini T, Munshi, Jeffrey, Stedehouder, Johan M, Kros, Mark, Williams, Helen, Heussler, Femke M S, de Vrij, Edwin J, Mientjes, Geeske M, van Woerden, Steven A, Kushner, Ben, Distel, Ype, Elgersma
Publikováno v:
Nature neuroscience. 22(8)
Mutations affecting the gene encoding the ubiquitin ligase UBE3A cause Angelman syndrome. Although most studies focus on the synaptic function of UBE3A, we show that UBE3A is highly enriched in the nucleus of mouse and human neurons. We found that th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eb3e5ddef64686f72a3f404d7c534333
https://pubmed.ncbi.nlm.nih.gov/31235931
https://pubmed.ncbi.nlm.nih.gov/31235931
Autor:
Johanna E. Hakonen, Marit B. de Wissel, Marian A. J. Weterman, Boris Bleijlevens, Ben Distel, Vincenzo Sorrentino, Marlene van den Berg, Rossella Avagliano Trezza, Fred van Ruissen, Noam Zelcer, Frank Baas
Publikováno v:
Human Molecular Genetics, 26(11), 2034-2041. Oxford University Press
Human molecular genetics, 26(11), 2034-2041. Oxford University Press
Human molecular genetics, 26(11), 2034-2041. Oxford University Press
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d02dc6cffe1b8a130c47318df138695c
https://pure.eur.nl/en/publications/56cdcf31-140e-424f-9cd4-d6927b3d246e
https://pure.eur.nl/en/publications/56cdcf31-140e-424f-9cd4-d6927b3d246e