E-LIB Suche - Ergebnisse für: Mientjes, Edwin J.

1

A loss of function variant in AGPAT3 underlies intellectual..:

Malik, Madiha Amin ; Saqib, Muhammad Arif Nadeem ; Mientjes, Edwin...
European Journal of Human Genetics. 31 (2023) 12 - p. 1447-1454 , 2023

Link: https://doi.org/10.1038/..

2

Secreted retrovirus-like GAG-domain-containing protein PEG1..:

Pandya, Nikhil J. ; Wang, Congwei ; Costa, Veronica...
Cell Reports Medicine. 2 (2021) 8 - p. 100360 , 2021

Link: https://doi.org/10.1016/..

3

Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-d..:

Avagliano Trezza, Rossella ; Punt, A. Mattijs ; Mientjes, Edwin...
Scientific Reports. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

4

Antisense oligonucleotide treatment rescues UBE3A expressio..:

Milazzo, Claudia ; Mientjes, Edwin J. ; Wallaard, Ilse...
JCI Insight. 6 (2021) 15 - p. , 2021

Link: https://doi.org/10.1172/..

5

Angelman Syndrome: From Mouse Models to Therapy:

Rotaru, Diana C. ; Mientjes, Edwin J. ; Elgersma, Ype
Neuroscience. 445 (2020) - p. 172-189 , 2020

Link: https://doi.org/10.1016/..

6

Assessing the requirements of prenatal UBE3A expression for..:

Sonzogni, Monica ; Zhai, Peipei ; Mientjes, Edwin J...
Molecular Autism. 11 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

7

The role of ubiquitin ligase E3A in polarized contact guida..:

Tonazzini, Ilaria ; Van Woerden, Geeske M. ; Masciullo, Cecilia...
Molecular Autism. 10 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

8

Loss of nuclear UBE3A causes electrophysiological and behav..:

Avagliano Trezza, Rossella ; Sonzogni, Monica ; Bossuyt, Stijn N. V....
Nature Neuroscience. 22 (2019) 8 - p. 1235-1247 , 2019

Link: https://doi.org/10.1038/..

9

The intellectual disability-associated CAMK2G p.Arg292Pro m..:

Proietti Onori, Martina ; Koopal, Balwina ; Everman, David B....
Human Mutation. 39 (2018) 12 - p. 2008-2024 , 2018

Link: https://doi.org/10.1002/..

10

Candidate CSPG4 mutations and induced pluripotent stem cell..:

GROUP Study Consortium ; de Vrij, Femke M. ; Bouwkamp, Christian G....
Molecular Psychiatry. 24 (2018) 5 - p. 757-771 , 2018

Link: https://doi.org/10.1038/..

11

Improvement of ubiquitylation site detection by Orbitrap ma..:

van der Wal, Lennart ; Bezstarosti, Karel ; Sap, Karen A....
Journal of Proteomics. 172 (2018) - p. 49-56 , 2018

Link: https://doi.org/10.1016/..

12

The GABAA receptor is an FMRP target with therapeutic poten..:

Braat, Sien ; D'Hulst, Charlotte ; Heulens, Inge...
Cell Cycle. 14 (2015) 18 - p. 2985-2995 , 2015

Link: https://doi.org/10.4161/..

13

DAZL Limits Pluripotency, Differentiation, and Apoptosis in..:

Chen, Hsu-Hsin ; Welling, Maaike ; Bloch, Donald B....
Stem Cell Reports. 3 (2014) 5 - p. 892-904 , 2014

Link: https://doi.org/10.1016/..

14

Synaptic ionotropic glutamate receptors and plasticity are ..:

Pilpel, Yair ; Kolleker, Aleksander ; Berberich, Sven...
The Journal of Physiology. 587 (2009) 4 - p. 787-804 , 2009

Link: https://doi.org/10.1113/..

15

Negative Regulation of the RelA/p65 Transactivation Functio..:

Sammons, Morgan ; Wan, Shan Shan ; Vogel, Nancy L....
Journal of Biological Chemistry. 281 (2006) 37 - p. 26802-26812 , 2006

Link: https://doi.org/10.1074/..