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Joubert Syndrome
Joubert Syndrome References
Saraiva JM, Baraitser M: Joubert syndrome: a review. Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415.
Phosphatidylinositol Phosphate Metabolism References
Tanaka S, Nikawa J, Imai H, Yamashita S, Hosaka K: Molecular cloning of rat phosphatidylinositol synthase cDNA by functional complementation of the yeast Saccharomyces cerevisiae pis mutation. FEBS Lett. 1996 Sep 9;393(1):89-92. doi: 10.1016/0014-5793(96)00858-7.
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Imai A, Gershengorn MC: Regulation by phosphatidylinositol of rat pituitary plasma membrane and endoplasmic reticulum phosphatidylinositol synthase activities. A mechanism for activation of phosphoinositide resynthesis during cell stimulation. J Biol Chem. 1987 May 15;262(14):6457-9.
McPherson PS, Garcia EP, Slepnev VI, David C, Zhang X, Grabs D, Sossin WS, Bauerfeind R, Nemoto Y, De Camilli P: A presynaptic inositol-5-phosphatase. Nature. 1996 Jan 25;379(6563):353-7. doi: 10.1038/379353a0.
Woscholski R, Finan PM, Radley E, Parker PJ: Identification and characterisation of a novel splice variant of synaptojanin1. FEBS Lett. 1998 Jul 31;432(1-2):5-8. doi: 10.1016/s0014-5793(98)00820-5.
Ramjaun AR, McPherson PS: Tissue-specific alternative splicing generates two synaptojanin isoforms with differential membrane binding properties. J Biol Chem. 1996 Oct 4;271(40):24856-61. doi: 10.1074/jbc.271.40.24856.
Row PE, Reaves BJ, Domin J, Luzio JP, Davidson HW: Overexpression of a rat kinase-deficient phosphoinositide 3-kinase, Vps34p, inhibits cathepsin D maturation. Biochem J. 2001 Feb 1;353(Pt 3):655-61. doi: 10.1042/0264-6021:3530655.
Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV: Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues. Nat Commun. 2012 Jun 6;3:876. doi: 10.1038/ncomms1871.
Lemaire JF, McPherson PS: Binding of Vac14 to neuronal nitric oxide synthase: Characterisation of a new internal PDZ-recognition motif. FEBS Lett. 2006 Dec 22;580(30):6948-54. doi: 10.1016/j.febslet.2006.11.061. Epub 2006 Dec 4.
Davy BE, Robinson ML: Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. Hum Mol Genet. 2003 May 15;12(10):1163-70. doi: 10.1093/hmg/ddg122.
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Luo B, Prescott SM, Topham MK: Diacylglycerol kinase zeta regulates phosphatidylinositol 4-phosphate 5-kinase Ialpha by a novel mechanism. Cell Signal. 2004 Aug;16(8):891-7. doi: 10.1016/j.cellsig.2004.01.010.
Norris FA, Atkins RC, Majerus PW: The cDNA cloning and characterization of inositol polyphosphate 4-phosphatase type II. Evidence for conserved alternative splicing in the 4-phosphatase family. J Biol Chem. 1997 Sep 19;272(38):23859-64. doi: 10.1074/jbc.272.38.23859.
Grainger DL, Tavelis C, Ryan AJ, Hinchliffe KA: Involvement of phosphatidylinositol 5-phosphate in insulin-stimulated glucose uptake in the L6 myotube model of skeletal muscle. Pflugers Arch. 2011 Nov;462(5):723-32. doi: 10.1007/s00424-011-1008-4. Epub 2011 Aug 17.
Osborne MA, Zenner G, Lubinus M, Zhang X, Songyang Z, Cantley LC, Majerus P, Burn P, Kochan JP: The inositol 5'-phosphatase SHIP binds to immunoreceptor signaling motifs and responds to high affinity IgE receptor aggregation. J Biol Chem. 1996 Nov 15;271(46):29271-8. doi: 10.1074/jbc.271.46.29271.
This pathway was propagated using PathWhiz - Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000582