PMC Links for GEO Profiles (Select 21252117) - PMC

Select item 58410541.

Phospholipase A₂-activating protein is associated with a novel form of leukoencephalopathy

Tzipora C Falik Zaccai, David Savitzki, Yifat Zivony-Elboum, Thierry Vilboux, Eric C Fitts, Yishay Shoval, Limor Kalfon, Nadra Samra, Zohar Keren, Bella Gross, Natalia Chasnyk, Rachel Straussberg, James C Mullikin, Jamie K Teer, Dan Geiger, Daniel Kornitzer, Ora Bitterman-Deutsch, Abraham O Samson, Maki Wakamiya, Johnny W Peterson, Michelle L Kirtley, Iryna V Pinchuk, Wallace B Baze, William A Gahl, Robert Kleta, Yair Anikster, Ashok K Chopra

Brain. 2017 Feb; 140(2): 370–386. Published online 2016 Dec 21. doi: 10.1093/brain/aww295

PMCID:: PMC5841054

Abstract Article PDF–1.7M

Select item 54203472.

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

Emma A. Hall, Michael S. Nahorski, Lyndsay M. Murray, Ranad Shaheen, Emma Perkins, Kosala N. Dissanayake, Yosua Kristaryanto, Ross A. Jones, Julie Vogt, Manon Rivagorda, Mark T. Handley, Girish R. Mali, Tooba Quidwai, Dinesh C. Soares, Margaret A. Keighren, Lisa McKie, Richard L. Mort, Noor Gammoh, Amaya Garcia-Munoz, Tracey Davey, Matthieu Vermeren, Diana Walsh, Peter Budd, Irene A. Aligianis, Eissa Faqeih, Alan J. Quigley, Ian J. Jackson, Yogesh Kulathu, Mandy Jackson, Richard R. Ribchester, Alex von Kriegsheim, Fowzan S. Alkuraya, C. Geoffrey Woods, Eamonn R. Maher, Pleasantine Mill

Am J Hum Genet. 2017 May 4; 100(5): 706–724. Published online 2017 Apr 13. doi: 10.1016/j.ajhg.2017.03.008

PMCID:: PMC5420347

Abstract Article PDF–4.3M

Select item 52423753.

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy

Chrisovalantis Papadopoulos, Philipp Kirchner, Monika Bug, Daniel Grum, Lisa Koerver, Nina Schulze, Robert Poehler, Alina Dressler, Sven Fengler, Khalid Arhzaouy, Vanda Lux, Michael Ehrmann, Conrad C Weihl, Hemmo Meyer

EMBO J. 2017 Jan 17; 36(2): 135–150. Published online 2016 Oct 17. doi: 10.15252/embj.201695148

PMCID:: PMC5242375

Abstract Article PDF–10M

Select item 43207504.

Cytosolic Phospholipase A₂ Protein as a Novel Therapeutic Target for Spinal Cord Injury

Nai-Kui Liu, Ling-Xiao Deng, Yi Ping Zhang, Qing-Bo Lu, Xiao-Fei Wang, Jian-Guo Hu, Eddie Oakes, Joseph V Bonventre, Christopher B Shields, Xiao-Ming Xu

Ann Neurol. 2014 May; 75(5): 644–658. Published online 2014 Apr 2. doi: 10.1002/ana.24134

PMCID:: PMC4320750

Abstract Article PDF–1.1M

Select item 31780595.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 518846.

Cloning of a phospholipase A2-activating protein.

M A Clark, L E Ozgür, T M Conway, J Dispoto, S T Crooke, J S Bomalaski

Proc Natl Acad Sci U S A. 1991 Jun 15; 88(12): 5418–5422. doi: 10.1073/pnas.88.12.5418

PMCID:: PMC51884

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