Zobrazeno 1 - 10
of 18
pro vyhledávání: '"A Mattijs, Punt"'
Autor:
Liz Jalazo, Jennifer M. Mathews, Jalin Stelzer, Mattijs Punt, Jason Yi, Ype Elgersma, Elizabeth Jalazo
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100230- (2023)
Externí odkaz:
https://doaj.org/article/627d71eb47f54fd99b7651598c53a645
Autor:
A. Mattijs Punt, Matthew C. Judson, Michael S. Sidorov, Brittany N. Williams, Naomi S. Johnson, Sabine Belder, Dion den Hertog, Courtney R. Davis, Maximillian S. Feygin, Patrick F. Lang, Mehrnoush Aghadavoud Jolfaei, Patrick J. Curran, Wilfred F.J. van IJcken, Ype Elgersma, Benjamin D. Philpot
Publikováno v:
JCI Insight, Vol 7, Iss 18 (2022)
Chromosome 15q11.2–q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the UBE3A gen
Externí odkaz:
https://doaj.org/article/7a3cbddaed7a4251860363085a8801d7
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:
Matthew C. Judson, Charles Shyng, Jeremy M. Simon, Courtney R. Davis, A. Mattijs Punt, Mirabel T. Salmon, Noah W. Miller, Kimberly D. Ritola, Ype Elgersma, David G. Amaral, Steven J. Gray, Benjamin D. Philpot
Publikováno v:
JCI Insight, Vol 6, Iss 20 (2021)
Loss of the maternal UBE3A allele causes Angelman syndrome (AS), a debilitating neurodevelopmental disorder. Here, we devised an AS treatment strategy based on reinstating dual-isoform expression of human UBE3A (hUBE3A) in the developing brain. Kozak
Externí odkaz:
https://doaj.org/article/888b4e1fb7f544c69593f51d6a0911fc
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
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
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:
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
Autor:
Mark Nellist, Hannie C.W. Douben, Marianne Hoogeveen-Westerveld, Jesse Louwen, Marian Kroos-de Haan, Mattijs Punt, Babeth van Ommeren, Leontine van Unen, P. Elfferich, Esmee Kasteleijn, Yolande Van Bever, Margreethe van Vliet, Rianne Oostenbrink, Jasper Saris, Anja Wagner, Yvette van Ierland, Tjakko J. van Ham, Rick Van Minkelen
Neurofibromatosis type 1 (NF1) and Legius syndrome (LS) are caused by inactivating variants in NF1 and SPRED1. NF1 encodes neurofibromin (NF), a GTPase activating protein (GAP) for RAS, that interacts with the SPRED1 product, Sprouty-related protein
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e1024230efe742daca9f97bb001b8ab
https://doi.org/10.22541/au.165217208.81458305/v1
https://doi.org/10.22541/au.165217208.81458305/v1
Autor:
Noah W. Miller, Benjamin D. Philpot, A. Mattijs Punt, Courtney R. Davis, Charles Shyng, Jeremy M. Simon, David G. Amaral, Mirabel T. Salmon, Kimberly Ritola, Steven J. Gray, Ype Elgersma, Matthew C. Judson
Publikováno v:
JCI Insight
JCI insight, 6(20):e144712. The American Society for Clinical Investigation
JCI insight, 6(20):e144712. The American Society for Clinical Investigation
Loss of the maternal UBE3A allele causes Angelman syndrome (AS), a debilitating neurodevelopmental disorder. Here, we devised an AS treatment strategy based on reinstating dual-isoform expression of human UBE3A (hUBE3A) in the developing brain. Kozak
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40f4fd370fb4f7e25e69e7238d56f1c8
http://europepmc.org/articles/PMC8564914
http://europepmc.org/articles/PMC8564914