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Items: 7

1.
TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation
Nilofer Husain, Qiang Yuan, Yi‐Chun Yen, Olga Pletnikova, Dong Qianying Sally, Paul Worley, Zoë Bichler, H. Shawn Je
Aging Cell. 2017 Apr; 16(2): 281–292. Published online 2016 Dec 20. doi: 10.1111/acel.12551
PMCID:
PMC5334534
AbstractArticlePDF–1.4M
2.
RNF216 contributes to proliferation and migration of colorectal cancer via suppressing BECN1-dependent autophagy
Hui Wang, Yanan Wang, Liu Qian, Xue Wang, Hailiang Gu, Xiaoqiang Dong, Shiqian Huang, Min Jin, Hailiang Ge, Congfeng Xu, Yanyun Zhang
Oncotarget. 2016 Aug 9; 7(32): 51174–51183. Published online 2016 May 18. doi: 10.18632/oncotarget.9433
PMCID:
PMC5239467
AbstractArticlePDF–12M
3.
Regulation of autophagy by E3 ubiquitin ligase RNF216 through BECN1 ubiquitination
Congfeng Xu, Kuan Feng, Xiaonan Zhao, Shiqian Huang, Yiji Cheng, Liu Qian, Yanan Wang, Hongxing Sun, Min Jin, Tsung-Hsien Chuang, Yanyun Zhang
Autophagy. 2014 Dec; 10(12): 2239–2250. Published online 2015 Jan 28. doi: 10.4161/15548627.2014.981792
PMCID:
PMC4502788
AbstractArticlePDF–1.1M
4.
TRIADs: a new class of proteins with a novel cysteine-rich signature.
B. A. van der Reijden, C. A. Erpelinck-Verschueren, B. Löwenberg, J. H. Jansen
Protein Sci. 1999 Jul; 8(7): 1557–1561. doi: 10.1110/ps.8.7.1557
PMCID:
PMC2144383
SummaryPDF–772K
5.
Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing
Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann
EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058
PMCID:
PMC1083732
AbstractArticlePDF–375K
6.
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings
Cristian R. Calandra, Yamile Mocarbel, Sebastian A. Vishnopolska, Vanessa Toneguzzo, Jaen Oliveri, Enrique Carlos Cazado, German Biagioli, Adrián G. Turjanksi, Marcelo Marti
Mov Disord Clin Pract. 2019 Mar; 6(3): 259–262. Published online 2019 Jan 16. doi: 10.1002/mdc3.12721
PMCID:
PMC6417841
ArticlePDF–871K
7.
Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth ventricle
Frank Y. Lin, Katie Bergstrom, Richard Person, Abhishek Bavle, Leomar Y. Ballester, Sarah Scollon, Robin Raesz-Martinez, Andrew Jea, Sherri Birchansky, David A. Wheeler, Stacey L. Berg, Murali M. Chintagumpala, Adekunle M. Adesina, Christine Eng, Angshumoy Roy, Sharon E. Plon, D. Williams Parsons
Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5): a001057. doi: 10.1101/mcs.a001057
PMCID:
PMC5002928
AbstractArticlePDF–1.2M

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