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Items: 15

1.

INPP5E Preserves Genomic Stability through Regulation of Mitosis.

Sierra Potchanant EA, Cerabona D, Sater ZA, He Y, Sun Z, Gehlhausen J, Nalepa G.

Mol Cell Biol. 2017 Mar 1;37(6). pii: e00500-16. doi: 10.1128/MCB.00500-16. Print 2017 Mar 15. Erratum in: Mol Cell Biol. 2017 Sep 26;37(20):.

2.

INPP5E regulates phosphoinositide-dependent cilia transition zone function.

Dyson JM, Conduit SE, Feeney SJ, Hakim S, DiTommaso T, Fulcher AJ, Sriratana A, Ramm G, Horan KA, Gurung R, Wicking C, Smyth I, Mitchell CA.

J Cell Biol. 2017 Jan 2;216(1):247-263. doi: 10.1083/jcb.201511055. Epub 2016 Dec 20.

3.

Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.

Nozaki S, Katoh Y, Terada M, Michisaka S, Funabashi T, Takahashi S, Kontani K, Nakayama K.

J Cell Sci. 2017 Feb 1;130(3):563-576. doi: 10.1242/jcs.197004. Epub 2016 Dec 7.

4.

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

Hasegawa J, Iwamoto R, Otomo T, Nezu A, Hamasaki M, Yoshimori T.

EMBO J. 2016 Sep 1;35(17):1853-67. doi: 10.15252/embj.201593148. Epub 2016 Jun 23.

5.

Inpp5e suppresses polycystic kidney disease via inhibition of PI3K/Akt-dependent mTORC1 signaling.

Hakim S, Dyson JM, Feeney SJ, Davies EM, Sriratana A, Koenig MN, Plotnikova OV, Smyth IM, Ricardo SD, Hobbs RM, Mitchell CA.

Hum Mol Genet. 2016 Jun 1;25(11):2295-2313. Epub 2016 Apr 7.

PMID:
27056978
6.

Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis.

Xu Q, Zhang Y, Wei Q, Huang Y, Hu J, Ling K.

Nat Commun. 2016 Feb 26;7:10777. doi: 10.1038/ncomms10777.

7.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

8.

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

Plotnikova OV, Seo S, Cottle DL, Conduit S, Hakim S, Dyson JM, Mitchell CA, Smyth IM.

J Cell Sci. 2015 Jan 15;128(2):364-72. doi: 10.1242/jcs.161323. Epub 2014 Nov 13.

9.

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

Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T.

Hum Mutat. 2014 Jan;35(1):137-46.

10.

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.

Eur J Hum Genet. 2013 Oct;21(10):1074-8. doi: 10.1038/ejhg.2012.305. Epub 2013 Feb 6.

11.

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.

Humbert MC, Weihbrecht K, Searby CC, Li Y, Pope RM, Sheffield VC, Seo S.

Proc Natl Acad Sci U S A. 2012 Nov 27;109(48):19691-6. doi: 10.1073/pnas.1210916109. Epub 2012 Nov 12.

12.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.

Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F; GPN Study Group.

J Med Genet. 2011 Feb;48(2):105-16. doi: 10.1136/jmg.2010.082552. Epub 2010 Nov 10. Erratum in: J Med Genet. 2015 Dec;52(12):866.

13.

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG.

Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9.

14.

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.

Jacoby M, Cox JJ, Gayral S, Hampshire DJ, Ayub M, Blockmans M, Pernot E, Kisseleva MV, Compère P, Schiffmann SN, Gergely F, Riley JH, Pérez-Morga D, Woods CG, Schurmans S.

Nat Genet. 2009 Sep;41(9):1027-31. doi: 10.1038/ng.427. Epub 2009 Aug 9.

PMID:
19668215
15.

Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network.

Kong AM, Speed CJ, O'Malley CJ, Layton MJ, Meehan T, Loveland KL, Cheema S, Ooms LM, Mitchell CA.

J Biol Chem. 2000 Aug 4;275(31):24052-64.

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