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23 documents found
1: Title: Properties of human genes guided by their enrichment in rare and common variants.
Authors: Alhuzimi, Eman, et.al. .
Journal: Human mutation (Hum Mutat), 2017 .
Snippet: However, in half of the genes enriched in rare variants (AOC2, MAMDC4, ANKHD1, CDC42BPB, SPAG5, TRRAP, TANC2, IQCH, USP54, SRRM2, DOPEY2, and PITPNM1), no disease-causing variants have been identified in major, publicly available databases.
Affiliation: Structural Bioinformatics Group, Department of Life Sciences, Imperial College London, London, SW7 2AZ, UK. .
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2: Title: Phosphatidylinositol-Phosphatidic Acid Exchange by Nir2 at ER-PM Contact Sites Maintains Phosphoinositide Signaling Competence.
Authors: Kim, Yeun Ju, et.al. .
Journal: Developmental cell (Dev Cell), Vol. 33 (5): 549-61, 2015 .
Snippet: Sustained agonist-induced production of the second messengers InsP3 and diacylglycerol requires steady delivery of phosphatidylinositol (PtdIns) from its site of synthesis in the ER to the plasma membrane (PM) to maintain PtdIns(4,5)P2 levels.
Affiliation: Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: ballat@mail.nih.gov. .
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3: Title: Phosphatidylinositol 4,5-Bisphosphate Homeostasis Regulated by Nir2 and Nir3 Proteins at Endoplasmic Reticulum-Plasma Membrane Junctions.
Authors: Chang, Chi-Lun, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 290 (23): 14289-301, 2015 .
Snippet: With distinct phosphatidic acid binding abilities and PI transfer protein activities, Nir2 and its homolog Nir3 differentially regulate PIP2 homeostasis in cells during intense receptor stimulation and in the resting state, respectively.
Affiliation: From the Department of Physiology, University of Texas Southwestern Medical Center, Dallas, Texas 75390. From the Department of Physiology, University of Texas Southwestern Medical Center, Dallas, Texas 75390 jen.liou@utsouthwestern.edu. .
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4: Title: The lipid-transfer protein Nir2 enhances epithelial-mesenchymal transition and facilitates breast cancer metastasis.
Authors: Keinan, Omer, et.al. .
Journal: Journal of cell science (J Cell Sci), Vol. 127 (Pt 21): 4740-9, 2014 .
Snippet: Here, we show that the lipid-transfer protein Nir2 (also known as PITPNM1) enhances EMT in mammary epithelial and breast cancer cells.
Affiliation: Molecular Cell Biology Department, Weizmann Institute of Science, Rehovot 76100, Israel. Department of Obstetrics and Gynecology, Goethe University Frankfurt, Theodor-Stern Kai 7, 60590 Frankfurt, Germany. Molecular Cell Biology Department, Weizmann Institute of Science, Rehovot 76100, Israel sima.lev@weizmann.ac.il. .
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5: Title: Feedback regulation of receptor-induced Ca2+ signaling mediated by E-Syt1 and Nir2 at endoplasmic reticulum-plasma membrane junctions.
Authors: Chang, Chi-Lun, et.al. .
Journal: Cell reports (Cell Rep), Vol. 5 (3): 813-25, 2013 .
Snippet: Endoplasmic reticulum (ER)-plasma membrane (PM) junctions are highly conserved subcellular structures.
Affiliation: Department of Physiology, UT Southwestern Medical Center, Dallas, TX 75390, USA. .
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6: Title: The phosphatidylinositol-transfer protein Nir2 binds phosphatidic acid and positively regulates phosphoinositide signalling.
Authors: Kim, SoHui, et.al. .
Journal: EMBO reports (Embo Rep), Vol. 14 (10): 891-9, 2013 .
Snippet: Finally, we show that Nir2 positively regulates the MAPK and PI3K/AKT pathways.
Affiliation: Molecular Cell Biology Department, Weizmann Institute of Science, Rehovot 76100, Israel. .
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7: Title: Pitpnm1 is expressed in hair cells during development but is not required for hearing.
Authors: Carlisle, F A, et.al. .
Journal: Neuroscience, Vol. 248, 2013 .
Snippet: Despite this specific expression, Pitpnm1 null mice showed no hearing defects, possibly due to redundancy with the paralogous genes Pitpnm2 and Pitpnm3.
Affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, Cambs CB10 1SA, United Kingdom. Electronic address: francesca.carlisle@gmail.com. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, Cambs CB10 1SA, United Kingdom. Electronic address: sp9@sanger.ac.uk. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, Cambs CB10 1SA, United Kingdom. Electronic address: karen.steel@kcl.ac.uk. Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, Cambs CB10 1SA, United Kingdom. Electronic address: morag.lewis@kcl.ac.uk. .
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8: Title: The diverse functions of phosphatidylinositol transfer proteins.
Journal: Current topics in microbiology and immunology (Curr Top Microbiol), Vol. 362, 2012 .
Snippet: name PITPNM1 and PITPNM2) are present as multi-domain proteins with the PITP domain located at the N-terminus.
Affiliation: Department of Neuroscience, Physiology and Pharmacology, Division of Biosciences, University College London, UK. s.cockcroft@ucl.ac.uk .
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9: Title: Structural, stability, dynamic and binding properties of the ALS-causing T46I mutant of the hVAPB MSP domain as revealed by NMR and MD simulations.
Authors: Lua, Shixiong, et.al. .
Journal: PloS one, Vol. 6 (11): e27072, 2011 .
Snippet: T46I is the second mutation on the hVAPB MSP domain which was recently identified from non-Brazilian kindred to cause a familial amyotrophic lateral sclerosis (ALS).
Affiliation: Department of Biological Sciences, Faculty of Science, National University of Singapore, Singapore, Singapore. .
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10: Title: Analysis of transcriptional regulatory pathways of photoreceptor genes by expression profiling of the Otx2-deficient retina.
Authors: Omori, Yoshihiro, et.al. .
Journal: PloS one, Vol. 6 (5): e19685, 2011 .
Snippet: Furthermore, we identified three human retinal disease loci mapped in close proximity to certain down-regulated genes in the Otx2 CKO retina including Ccdc126, Tnfsf13 and Pitpnm1, suggesting that these genes are possibly responsible for these diseases.
Affiliation: Department of Developmental Biology, Osaka Bioscience Institute, Osaka, Japan. .
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11: Title: An ENU-induced mutation of miR-96 associated with progressive hearing loss in mice.
Authors: Lewis, Morag A, et.al. .
Journal: Nature genetics (Nat Genet), Vol. 41 (5): 614-8, 2009 .
Snippet: Microarray analysis revealed 96 transcripts with significantly altered expression in homozygotes; notably, Slc26a5, Ocm, Gfi1, Ptprq and Pitpnm1 were downregulated.
Affiliation: Wellcome Trust Sanger Institute, Hinxton, UK. .
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12: Title: Coordinated lipid transfer between the endoplasmic reticulum and the Golgi complex requires the VAP proteins and is essential for Golgi-mediated transport.
Authors: Peretti, Diego, et.al. .
Journal: Molecular biology of the cell (Mol Biol Cell), Vol. 19 (9): 3871-84, 2008 .
Snippet: The effect of VAPs on PI4P levels is mediated by the phosphatidylinositol/phosphatidylcholine transfer protein Nir2, which is required for Golgi targeting of OSBP and CERT and the subsequent production of diacylglycerol and sphingomyelin.
Affiliation: The Molecular Cell Biology Department, Weizmann Institute of Science, Rehovot 76100, Israel. .
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13: Title: Maintenance of the diacylglycerol level in the Golgi apparatus by the Nir2 protein is critical for Golgi secretory function.
Authors: Litvak, Vladimir, et.al. .
Journal: Nature cell biology (Nat Cell Biol), Vol. 7 (3): 225-34, 2005 .
Snippet: Depletion of Nir2 by RNAi leads to substantial inhibition of protein transport from the trans-Golgi network to the plasma membrane, and causes a reduction in the DAG level in the Golgi apparatus.
Affiliation: Department of Neurobiology, Weizmann Institute of Science, Rehovot 76100, Israel. .
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14: Title: Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3.
Authors: Ocaka, L, et.al. .
Journal: Cytogenetic and genome research (Cytogenet Genome Res), Vol. 108 (4): 293-302, 2005 .
Snippet: In order to facilitate the analysis of these genes we have used radiation hybrid mapping and fluorescence in situ hybridization to localize the PITPNM2 and 3 genes to human chromosomes 12p24 and 17p13 respectively and hybrid mapping to confirm the localization of PITPNM1 to chromosome 11q13.
Affiliation: Genomic Medicine, Division of Medicine, Imperial College, Hammersmith Hospital, London, UK. .
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15: Title: Differential regulation of endoplasmic reticulum structure through VAP-Nir protein interaction.
Authors: Amarilio, Roy, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 280 (7): 5934-44, 2005 .
Snippet: evidence that Nir (Nir1, Nir2, and Nir3)-VAP-B interactions are mediated through the conserved FFAT (two phenylalanines (FF) in acidic tract) motif present in Nir proteins
Affiliation: Neurobiology Department, Weizmann Institute of Science, Rehovot 76100, Israel. .
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16: Title: The role of the Nir/rdgB protein family in membrane trafficking and cytoskeleton remodeling.
Authors: Lev, Sima .
Journal: Experimental cell research (Exp Cell Res), Vol. 297 (1): 1-10, 2004 .
Snippet: The other Nir/rdgB family members are functionally and structurally related to the Drosophila homolog and are implicated in regulation of lipid trafficking, metabolism, and signaling.
Affiliation: Department of Neurobiology, Weizmann Institute of Science, Rehovot 76100, Israel. sima.lec@weizmann.ac.il .
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17: Title: Mitotic phosphorylation of the peripheral Golgi protein Nir2 by Cdk1 provides a docking mechanism for Plk1 and affects cytokinesis completion.
Authors: Litvak, Vladimir, et.al. .
Journal: Molecular cell (Mol Cell), Vol. 14 (3): 319-30, 2004 .
Snippet: Mitotic phosphorylation of Nir2 is required for docking of the phospho-Ser/Thr binding module, the Polo box domain of Plk1, and overexpression of a Nir2 mutant, which fails to interact with Plk1, affects the completion of cytokinesis.
Affiliation: Neurobiology Department and Mass Spectrometry Unit, Weizmann Institute of Science, Rehovot 76100, Israel. .
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18: Title: Cloning and characterization of a novel variant (mM-rdgBbeta1) of mouse M-rdgBs, mammalian homologs of Drosophila retinal degeneration B gene proteins, and its mRNA localization in mouse brain in comparison with other M-rdgBs.
Authors: Takano, Nobuo, et.al. .
Journal: Journal of neurochemistry (J Neurochem), Vol. 84 (4): 829-39, 2003 .
Snippet: We report the cloning, characterization and localization in the brain of a novel isoform termed mM-rdgBbeta1 (mouse type of mammalian retinal degeneration Bbeta1 protein) in comparison with the localization of three known mammalian homologs (M-rdgBbeta, M-rdgB1, M-rdgB2).
Affiliation: Division of Histology, Department of Cell Biology, Graduate School of Medicine, Tohoku University, 2-1 Seiryo-machi, Aoba-ku, Sendai 980-8575, Japan. .
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19: Title: Targeting of Nir2 to lipid droplets is regulated by a specific threonine residue within its PI-transfer domain.
Authors: Litvak, Vladimir, et.al. .
Journal: Current biology : CB (Curr Biol), Vol. 12 (17): 1513-8, 2002 .
Snippet: Nir2, like its Drosophila homolog retinal degeneration B (RdgB), contains an N-terminal phosphatidylinositol-transfer protein (PI-TP)-like domain.
Affiliation: Department of Neurobiology, Weizmann Institute of Science, Rehovot 76100, Israel. .
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20: Title: Nir2, a human homolog of Drosophila melanogaster retinal degeneration B protein, is essential for cytokinesis.
Authors: Litvak, Vladimir, et.al. .
Journal: Molecular and cellular biology (Mol Cell Biol), Vol. 22 (14): 5064-75, 2002 .
Snippet: Nir2, a human homolog of Drosophila melanogaster retinal degeneration B protein, is essential for cytokinesis.
Affiliation: Department of Neurobiology, Weizmann Institute of Science, Rehovot 76100, Israel. .
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