PMC Links for Protein (Select 229462737) - PMC

Select item 53829431.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al-Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E. Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, Sunil Kumar Rai, Maria Monti, Gaurav V. Harlalka, Michael A. Simpson, Philip Rich, Fatema Al-Salmi, Michael A. Patton, Barry A. Chioza, Stephanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G. Hanna, Piero Pucci, Henry Houlden, James R. Lupski, Andrew H. Crosby, Emma L. Baple

Brain. 2017 Apr; 140(4): 940–952. Published online 2017 Feb 28. doi: 10.1093/brain/awx014

PMCID:: PMC5382943

Abstract Article PDF–924K

Select item 48240122.

Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

Ender Karaca, Tamar Harel, Davut Pehlivan, Shalini N. Jhangiani, Tomasz Gambin, Zeynep Coban Akdemir, Claudia Gonzaga-Jauregui, Serkan Erdin, Yavuz Bayram, Ian M. Campbell, Jill V. Hunter, Mehmed M. Atik, Hilde Van Esch, Bo Yuan, Wojciech Wiszniewski, Sedat Isikay, Gozde Yesil, Ozge O. Yuregir, Sevcan Tug Bozdogan, Huseyin Aslan, Hatip Aydin, Tulay Tos, Ayse Aksoy, Darryl C. De Vivo, Preti Jain, B. Bilge Geckinli, Ozlem Sezer, Davut Gul, Burak Durmaz, Ozgur Cogulu, Ferda Ozkinay, Vehap Topcu, Sukru Candan, Alper Han Cebi, Mevlit Ikbal, Elif Yilmaz Gulec, Alper Gezdirici, Erkan Koparir, Fatma Ekici, Salih Coskun, Salih Cicek, Kadri Karaer, Asuman Koparir, Mehmet Bugrahan Duz, Emre Kirat, Elif Fenercioglu, Hakan Ulucan, Mehmet Seven, Tulay Guran, Nursel Elcioglu, Mahmut Selman Yildirim, Dilek Aktas, Mehmet Alikaşifoğlu, Mehmet Ture, Tahsin Yakut, John D. Overton, Adnan Yuksel, Mustafa Ozen, Donna M. Muzny, David R. Adams, Eric Boerwinkle, Wendy K. Chung, Richard A. Gibbs, James R Lupski

Neuron. Author manuscript; available in PMC 2016 Nov 4.

Published in final edited form as: Neuron. 2015 Nov 4; 88(3): 499–513. doi: 10.1016/j.neuron.2015.09.048

PMCID:: PMC4824012

Abstract Article PDF–3.2M

Select item 34120313.

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB

Petra Van Damme, Marta Lasa, Bogdan Polevoda, Cristina Gazquez, Alberto Elosegui-Artola, Duk Soo Kim, Elena De Juan-Pardo, Kimberly Demeyer, Kristine Hole, Esther Larrea, Evy Timmerman, Jesus Prieto, Thomas Arnesen, Fred Sherman, Kris Gevaert, Rafael Aldabe

Proc Natl Acad Sci U S A. 2012 Jul 31; 109(31): 12449–12454. Published online 2012 Jul 18. doi: 10.1073/pnas.1210303109

PMCID:: PMC3412031

Abstract Article PDF–958K

Select item 30395704.

Initial characterization of the human central proteome

Thomas R Burkard, Melanie Planyavsky, Ines Kaupe, Florian P Breitwieser, Tilmann Bürckstümmer, Keiryn L Bennett, Giulio Superti-Furga, Jacques Colinge

BMC Syst Biol. 2011; 5: 17. Published online 2011 Jan 26. doi: 10.1186/1752-0509-5-17

PMCID:: PMC3039570

Abstract Article PDF–2.3M

Select item 22136765.

The full-ORF clone resource of the German cDNA Consortium

Stephanie Bechtel, Heiko Rosenfelder, Anny Duda, Christian Peter Schmidt, Ute Ernst, Ruth Wellenreuther, Alexander Mehrle, Claudia Schuster, Andre Bahr, Helmut Blöcker, Dagmar Heubner, Andreas Hoerlein, Guenter Michel, Holger Wedler, Karl Köhrer, Birgit Ottenwälder, Annemarie Poustka, Stefan Wiemann, Ingo Schupp

BMC Genomics. 2007; 8: 399. Published online 2007 Oct 31. doi: 10.1186/1471-2164-8-399