Výsledky vyhledávání - "Mattijs Punt"

Akademický článek

Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function

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

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Dual-isoform hUBE3A gene transfer improves behavioral and seizure outcomes in Angelman syndrome model mice

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

Zobrazit plný text záznamu

The Hippocampal Response to Acute Corticosterone Elevation Is Altered in a Mouse Model for Angelman Syndrome

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)

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

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

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

Zobrazit plný text záznamu

Plný text ve formátu HTML

A cross-species spatiotemporal proteomic analysis identifies UBE3A-dependent signaling pathways and targets

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

Zobrazit plný text záznamu

Molecular and behavioral consequences of Ube3a gene overdosage in mice

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, 7(18):e158953. The American Society for Clinical Investigation

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 gene

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::794a72ee57d9254be6d7eaacc04a3272
https://pure.eur.nl/en/publications/c7876e0a-508b-4bf6-86b9-278b8a782c08

Zobrazit plný text záznamu

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations

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

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

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání