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1 . Academic Journal
Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function
저자
by
Rossella Avagliano Trezza
;
A. Mattijs Punt
;
Edwin Mientjes
;
Marlene van den Berg
;
F. Isabella Zampeta
, et al.
소스
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Open Access (DOAJ)
Web of Science
Scopus
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7 . Academic Journal
DAZL Limits Pluripotency, Differentiation, and Apoptosis in Developing Primordial Germ Cells
저자
by
Hsu-Hsin Chen
;
Maaike Welling
;
Donald B. Bloch
;
Javier Muñoz
;
Edwin Mientjes
, et al.
소스
Stem Cell Reports, Vol 3, Iss 5, Pp 892-904 (2014)
Full Text (ScienceDirect)
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7 .
Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome
저자
by
Peipei Zhai
;
Edwin Mientjes
;
Monica Sonzogni
;
Geeske M. van Woerden
;
Ype Elgersma
, et al.
소스
Molecular Autism, Vol 11, Iss 1, Pp 1-12 (2020)
Molecular Autism, 11(1). BioMed Central Ltd.
Molecular Autism
Open Access (BioMed Central)
Open Access (OpenAIRE)
Web of Science
Scopus
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7 .
Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiology
저자
by
Paul Lopatta
;
Ravi Jagasia
;
Rasmussen Søren Vestergaard
;
Tom Dunkley
;
Marco Berrera
, et al.
소스
Cell Reports Medicine
Cell Reports Medicine, 2(8):100360. Cell Press
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7 .
Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model
저자
by
Rasmussen Søren Vestergaard
;
A S Elise van der Sman
;
Marius C. Hoener
;
Ype Elgersma
;
Claudia Milazzo
, et al.
소스
JCI Insight
JCI insight, 6(15):e145991. The American Society for Clinical Investigation
Open Access (OpenAIRE)
Scopus
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7 .
Angelman Syndrome: From Mouse Models to Therapy
저자
by
Diana C. Rotaru
;
Ype Elgersma
;
Edwin Mientjes
;
Neurosciences
.
소스
Neuroscience, 445, 172-189. Elsevier Ltd.
Open Access (OpenAIRE)
Scopus
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6 .
The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons
저자
by
Edwin Mientjes
;
Marco Cecchini
;
Geeske M. van Woerden
;
Cecilia Masciullo
;
Ype Elgersma
, et al.
소스
Molecular Autism, 10(1):41. BioMed Central Ltd.
Molecular Autism
Molecular Autism, Vol 10, Iss 1, Pp 1-18 (2019)
Molecular autism 10 (2019): 41-1–41-18. doi:10.1186/s13229-019-0293-1
info:cnr-pdr/source/autori:Tonazzini I.; Van Woerden G.M.; Masciullo C.; Mientjes E.J.; Elgersma Y.; Cecchini M./titolo:The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons/doi:10.1186%2Fs13229-019-0293-1/rivista:Molecular autism/anno:2019/pagina_da:41-1/pagina_a:41-18/intervallo_pagine:41-1–41-18/volume:10
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7 .
Loss of nuclear UBE3A causes electrophysiological and behavioral deficits in mice and is associated with Angelman syndrome
저자
by
Linda M. C. Koene
;
Helen Heussler
;
Edwin Mientjes
;
Shashini T. Munshi
;
Femke M.S. de Vrij
, et al.
소스
Nature Neuroscience, 22(8), 1235-+. Nature Publishing Group
Nature neuroscience, 22(8), 1235-1247. Nature Publishing Group
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7 .
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia
저자
by
Michiel Coesmans
;
Najaf Amin
;
Christian G. Bouwkamp
;
Aviva Nijburg
;
Timothy Wu
, et al.
소스
Molecular Psychiatry, 24(5), 757-771. Nature Publishing Group
Molecular psychiatry, 24, 757-771. Nature Publishing Group
Molecular Psychiatry
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7 .
The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function
저자
by
Tjitske Kleefstra
;
Sébastien Küry
;
Steven A. Kushner
;
Edwin Mientjes
;
Ype Elgersma
, et al.
소스
Human Mutation, 39, 2008-2024
Human Mutation, 39, 12, pp. 2008-2024
Human Mutation, 39(12), 2008-2024. Wiley-Liss Inc.
Human Mutation
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