PMC Links for GEO Profiles (Select 76782636) - PMC

Select item 53392171.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Manuela Wiessner, Andreas Roos, Christopher J. Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G. Bönnemann, Osório Abath Neto, Umbertina C. Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell’Aica, René P. Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C. Walter, Tim M. Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E. Swan, Hanns Lochmüller, Jan Senderek

Am J Hum Genet. 2017 Mar 2; 100(3): 523–536. Published online 2017 Feb 9. doi: 10.1016/j.ajhg.2017.01.024

PMCID:: PMC5339217

Abstract Article PDF–2.0M

Select item 34220142.

Regulation of Insulin Signaling by the Phosphatidylinositol 3,4,5-Triphosphate Phosphatase SKIP through the Scaffolding Function of Pak1

Takeshi Ijuin, Tadaomi Takenawa

Mol Cell Biol. 2012 Sep; 32(17): 3570–3584. doi: 10.1128/MCB.00636-12

PMCID:: PMC3422014

Abstract Article PDF–4.6M

Select item 32935803.

Regulation of Insulin Signaling and Glucose Transporter 4 (GLUT4) Exocytosis by Phosphatidylinositol 3,4,5-Trisphosphate (PIP₃) Phosphatase, Skeletal Muscle, and Kidney Enriched Inositol Polyphosphate Phosphatase (SKIP)

Takeshi Ijuin, Tadaomi Takenawa

J Biol Chem. 2012 Mar 2; 287(10): 6991–6999. Published online 2012 Jan 15. doi: 10.1074/jbc.M111.335539

PMCID:: PMC3293580

Abstract Article PDF–1.8M

Select item 31910174.

Silencer of Death Domains (SODD) Inhibits Skeletal Muscle and Kidney Enriched Inositol 5-Phosphatase (SKIP) and Regulates Phosphoinositide 3-Kinase (PI3K)/Akt Signaling to the Actin Cytoskeleton

Parvin Rahman, Richard D. Huysmans, Fenny Wiradjaja, Rajendra Gurung, Lisa M. Ooms, David A. Sheffield, Jennifer M. Dyson, Meredith J. Layton, Absorn Sriratana, Hidetoshi Takada, Tony Tiganis, Christina A. Mitchell

J Biol Chem. 2011 Aug 26; 286(34): 29758–29770. Published online 2011 Jun 28. doi: 10.1074/jbc.M111.263103