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Select item 110333451.

INPP5E Regulates the Distribution of Phospholipids on Cilia in RPE1 Cells

Denghui Zhai, Lamei Li, Cheng Chen, Xue Wang, Ruming Liu, Ying Shan

J Clin Lab Anal. 2024 Apr; 38(7): e25031. Published online 2024 Mar 21. doi: 10.1002/jcla.25031

PMCID:: PMC11033345

Abstract Article PDF–2.0M

Select item 96207452.

The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling

Leah Schembs, Ariane Willems, Kerstin Hasenpusch-Theil, James D. Cooper, Katie Whiting, Karen Burr, Sunniva M.K. Bøstrand, Bhuvaneish T. Selvaraj, Siddharthan Chandran, Thomas Theil

Cell Rep. 2022 May 17; 39(7): 110811. Published online 2022 May 17. doi: 10.1016/j.celrep.2022.110811

PMCID:: PMC9620745

Abstract Article

Select item 50075533.

Autophagosome–lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome

Junya Hasegawa, Ryo Iwamoto, Takanobu Otomo, Akiko Nezu, Maho Hamasaki, Tamotsu Yoshimori

EMBO J. 2016 Sep 1; 35(17): 1853–1867. Published online 2016 Jun 23. doi: 10.15252/embj.201593148

PMCID:: PMC5007553

Abstract Article PDF–2.5M

Select item 27466824.

Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies

Stephanie L. Bielas, Jennifer L. Silhavy, Francesco Brancati, Marina V. Kisseleva, Lihadh Al-Gazali, Laszlo Sztriha, Riad A. Bayoumi, Maha S. Zaki, Alice Abdel-Aleem, Ozgur Rosti, Hulya Kayserili, Dominika Swistun, Lesley C. Scott, Enrico Bertini, Eugen Boltshauser, Elisa Fazzi, Lorena Travaglini, Seth J. Field, Stephanie Gayral, Monique Jacoby, Stephane Schurmans, Bruno Dallapiccola, Philip W. Majerus, Enza Maria Valente, Joseph G. Gleeson

Nat Genet. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Nat Genet. 2009 Sep; 41(9): 1032–1036. Published online 2009 Aug 9. doi: 10.1038/ng.423

PMCID:: PMC2746682

Abstract Article PDF–922K

Select item 12883775.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

Kathrin Saar, Lihadh Al-Gazali, László Sztriha, Franz Rueschendorf, Mohammed Nur-E-Kamal, André Reis, Riad Bayoumi

Am J Hum Genet. 1999 Dec; 65(6): 1666–1671. Published online 1999 Nov 22. doi: 10.1086/302655

PMCID:: PMC1288377

Abstract Article PDF–322K

Select item 78601346.

Interaction of INPP5E with ARL13B is essential for its ciliary membrane retention but dispensable for its ciliary entry

Hantian Qiu, Sayaka Fujisawa, Shohei Nozaki, Yohei Katoh, Kazuhisa Nakayama

Biol Open. 2021 Jan 15; 10(1): bio057653. Published online 2021 Jan 25. doi: 10.1242/bio.057653

PMCID:: PMC7860134

Abstract Article PDF–6.5M

Select item 57835187.

Upregulation of miR-598 promotes cell proliferation and cell cycle progression in human colorectal carcinoma by suppressing INPP5E expression

Kun-Ping Li, Yong-Ping Fang, Jin-Qi Liao, Jin-Dong Duan, Li-Guang Feng, Xiao-Zai Luo, Zhi-Jian Liang

Mol Med Rep. 2018 Feb; 17(2): 2991–2997. Published online 2017 Dec 6. doi: 10.3892/mmr.2017.8207

PMCID:: PMC5783518

Abstract Article PDF–1.5M

Select item 53355108.

INPP5E Preserves Genomic Stability through Regulation of Mitosis

Elizabeth A. Sierra Potchanant, Donna Cerabona, Zahi Abdul Sater, Ying He, Zejin Sun, Jeff Gehlhausen, Grzegorz Nalepa

Mol Cell Biol. 2017 Mar 15; 37(6): e00500-16. Prepublished online 2016 Dec 28. Published online 2017 Mar 1. doi: 10.1128/MCB.00500-16

Correction in:: Mol Cell Biol. 2017 Oct 15; 37(20): e00389-17.

PMCID:: PMC5335510

Abstract Article PDF–6.5M

Select item 50600879.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen J. Duran, Jonathan Adkins, Sairam A. Kumar, Dana M. Knutzen, Nine V. Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria D. Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A. Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

J Med Genet. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: J Med Genet. 2016 Jan; 53(1): 62–72. Published online 2015 Oct 21. doi: 10.1136/jmedgenet-2015-103250

PMCID:: PMC5060087

Abstract Article PDF–1.6M

Select item 502139010.

Molecular Determinants Directing HIV-1 Gag Assembly to Virus-Containing Compartments in Primary Macrophages

Jingga Inlora, Vineela Chukkapalli, Sukhmani Bedi, Akira Ono

J Virol. 2016 Oct 1; 90(19): 8509–8519. Prepublished online 2016 Jul 20. Published online 2016 Sep 12. doi: 10.1128/JVI.01004-16

PMCID:: PMC5021390

Abstract Article PDF–1.8M

Select item 429477811.

INPP5E interacts with AURKA, linking phosphoinositide signaling to primary cilium stability

Olga V. Plotnikova, Seongjin Seo, Denny L. Cottle, Sarah Conduit, Sandra Hakim, Jennifer M. Dyson, Christina A. Mitchell, Ian M. Smyth

J Cell Sci. 2015 Jan 15; 128(2): 364–372. doi: 10.1242/jcs.161323

PMCID:: PMC4294778

Abstract Article

Select item 377834312.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

Lorena Travaglini, Francesco Brancati, Jennifer Silhavy, Miriam Iannicelli, Elizabeth Nickerson, Nadia Elkhartoufi, Eric Scott, Emily Spencer, Stacey Gabriel, Sophie Thomas, Bruria Ben-Zeev, Enrico Bertini, Eugen Boltshauser, Malika Chaouch, Maria Roberta Cilio, Mirjam M de Jong, Hulya Kayserili, Gonul Ogur, Andrea Poretti, Sabrina Signorini, Graziella Uziel, Maha S Zaki, the International JSRD Study Group, Colin Johnson, Tania Attié-Bitach, Joseph G Gleeson, Enza Maria Valente

Eur J Hum Genet. 2013 Oct; 21(10): 1074–1078. Published online 2013 Feb 6. doi: 10.1038/ejhg.2012.305

PMCID:: PMC3778343

Abstract Article PDF–471K

Select item 306784013.

Assembly and Replication of HIV-1 in T Cells with Low Levels of Phosphatidylinositol-(4,5)-Bisphosphate

Kazuaki Monde, Vineela Chukkapalli, Akira Ono

J Virol. 2011 Apr; 85(7): 3584–3595. Published online 2011 Jan 26. doi: 10.1128/JVI.02266-10

PMCID:: PMC3067840

Abstract Article PDF–1.7M

Select item 225891114.

Interaction between the Human Immunodeficiency Virus Type 1 Gag Matrix Domain and Phosphatidylinositol-(4,5)-Bisphosphate Is Essential for Efficient Gag Membrane Binding

Vineela Chukkapalli, Ian B. Hogue, Vitaly Boyko, Wei-Shau Hu, Akira Ono

J Virol. 2008 Mar; 82(5): 2405–2417. Published online 2007 Dec 19. doi: 10.1128/JVI.01614-07

PMCID:: PMC2258911

Abstract Article PDF–644K

Select item 803764315.

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L

Christine Vössing, Paul Atigbire, Jannis Eilers, Fenja Markus, Knut Stieger, Fei Song, John Neidhardt

Int J Mol Sci. 2021 Apr; 22(7): 3583. Published online 2021 Mar 30. doi: 10.3390/ijms22073583

PMCID:: PMC8037643

Abstract Article PDF–2.7M

Select item 394637216.

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Avinash Abhyankar, Julien Saada, Isabelle Perrault, Jeanne Amiel, Julie Litzler, Emilie Filhol, Nadia Elkhartoufi, Mandy Kwong, Jean-Laurent Casanova, Nathalie Boddaert, Wolfgang Baehr, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Nicolas Chassaing, Ferechté Encha-Ravazi, Michel Vekemans, Joseph G. Gleeson, Enza Maria Valente, Peter K. Jackson, Iain A. Drummond, Sophie Saunier, Tania Attié-Bitach

Hum Mutat. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Hum Mutat. 2014 Jan; 35(1): 137–146. doi: 10.1002/humu.22470