Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Ben Distel"'
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
Autor:
Amber Geerts‐Haages, Stijn N. V. Bossuyt, Inge denBesten, Hennie Bruggenwirth, Ineke van derBurgt, Helger G. Yntema, A. Mattijs Punt, Alice Brooks, Ype Elgersma, Ben Distel, Marlies Valstar
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Loss of functional UBE3A, an E3 protein ubiquitin ligase, causes Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, speech impairment, epilepsy, movement or balance disorder, and a c
Externí odkaz:
https://doaj.org/article/951f87a1100f45729e7e69dffa69cd7c
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:
Anna T Tillmann, Karin Strijbis, Gary Cameron, Elahe Radmaneshfar, Marco Thiel, Carol A Munro, Donna M MacCallum, Ben Distel, Neil A R Gow, Alistair J P Brown
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0126940 (2015)
The major fungal pathogen of humans, Candida albicans, is exposed to reactive nitrogen and oxygen species following phagocytosis by host immune cells. In response to these toxins, this fungus activates potent anti-stress responses that include scaven
Externí odkaz:
https://doaj.org/article/0df4aa049ad24698846a8ca0b83a1d42
Autor:
Erik Verschueren, Matthias Spiess, Areti Gkourtsa, Teja Avula, Christiane Landgraf, Victor Tapia Mancilla, Aline Huber, Rudolf Volkmer, Barbara Winsor, Luis Serrano, Frans Hochstenbach, Ben Distel
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0129229 (2015)
To explore the conservation of Src homology 3 (SH3) domain-mediated networks in evolution, we compared the specificity landscape of these domains among four yeast species, Saccharomyces cerevisiae, Ashbya gossypii, Candida albicans, and Schizosacchar
Externí odkaz:
https://doaj.org/article/de328133ff05496bb531a3a35611b990
Autor:
Eva M. G. Viho, A. Mattijs Punt, Ben Distel, René Houtman, Jan Kroon, Ype Elgersma, Onno C. Meijer
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 1; Pages: 303
International Journal of Molecular Sciences, 24(1). MDPI
International Journal of Molecular Sciences, 24(1):303. Multidisciplinary Digital Publishing Institute (MDPI)
International Journal of Molecular Sciences, 24(1). MDPI
International Journal of Molecular Sciences, 24(1):303. Multidisciplinary Digital Publishing Institute (MDPI)
Angelman Syndrome (AS) is a severe neurodevelopmental disorder, caused by the neuronal absence of the ubiquitin protein ligase E3A (UBE3A). UBE3A promotes ubiquitin-mediated protein degradation and functions as a transcriptional coregulator of nuclea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a56c313ab2aabce28c4e4b905cf26c3
http://www.scopus.com/inward/record.url?scp=85145979342&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85145979342&partnerID=8YFLogxK
Publikováno v:
Human Genetics. 141:1837-1848
Angelman syndrome is a rare neurodevelopmental disorder caused by mutations affecting the chromosomal 15q11-13 region, either by contiguous gene deletions, imprinting defects, uniparental disomy, or mutations in the UBE3A gene itself. Phenotypic abno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0df24e29e73ef40ad84ee3af3bd1035
https://doi.org/10.1007/s00439-022-02460-x
https://doi.org/10.1007/s00439-022-02460-x
Autor:
Nikhil J. Pandya, Sonja Meier, Stefka Tyanova, Marco Terrigno, Congwei Wang, A. Mattijs Punt, E. J. Mientjes, Audrey Vautheny, Ben Distel, Thomas Kremer, Ype Elgersma, Ravi Jagasia
Publikováno v:
Molecular Psychiatry, 27(5), 2590-2601. Nature Publishing Group
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of neuronal E3 ligase UBE3A. Restoring UBE3A levels is a potential disease-modifying therapy for AS and has recently entered clinical trials. There is paucity of data r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84128f168d71327793040ac0f6a3d2ec
https://pure.eur.nl/en/publications/05c170dc-43ab-4e1c-8aca-64e279244065
https://pure.eur.nl/en/publications/05c170dc-43ab-4e1c-8aca-64e279244065
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:
A. Mattijs Punt, Janny van den Burg, Ilona J. de Graaf, Mark Williams, Helen Heussler, Ype Elgersma, Stijn N V Bossuyt, Ben Distel
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 30(6), 430-442. Oxford University Press
Human molecular genetics, 30(6), 430-442. Oxford University Press
Human Molecular Genetics, 30(6), 430-442. Oxford University Press
Human molecular genetics, 30(6), 430-442. Oxford University Press
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by deletion (~75%) or mutation (~10%) of the ubiquitin E3 ligase A (UBE3A) gene, which encodes a HECT type E3 ubiquitin protein ligase. Although the critical substrates of UBE3A ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9718602a9b38a7e220c2b1b5f796291
http://www.scopus.com/inward/record.url?scp=85106143770&partnerID=8YFLogxK
http://www.scopus.com/inward/record.url?scp=85106143770&partnerID=8YFLogxK