| INPP5E Regulates the Distribution of Phospholipids on Cilia in RPE1 Cells. | INPP5E Regulates the Distribution of Phospholipids on Cilia in RPE1 Cells.
Zhai D, Li L, Chen C, Wang X, Liu R, Shan Y., Free PMC Article | 05/7/2024 |
| TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia. | TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia.
Yinsheng Z, Miyoshi K, Qin Y, Fujiwara Y, Yoshimura T, Katayama T. | 11/19/2022 |
| The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling. | The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling.
Schembs L, Willems A, Hasenpusch-Theil K, Cooper JD, Whiting K, Burr K, Bøstrand SMK, Selvaraj BT, Chandran S, Theil T., Free PMC Article | 05/28/2022 |
| Interaction of INPP5E with ARL13B is essential for its ciliary membrane retention but dispensable for its ciliary entry. | Interaction of INPP5E with ARL13B is essential for its ciliary membrane retention but dispensable for its ciliary entry.
Qiu H, Fujisawa S, Nozaki S, Katoh Y, Nakayama K., Free PMC Article | 01/1/2022 |
| The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L. | The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.
Vössing C, Atigbire P, Eilers J, Markus F, Stieger K, Song F, Neidhardt J., Free PMC Article | 05/15/2021 |
| Formation of primary cilia is downregulated in TULP3-knockout (KO) RPE1 cells. ARL13B and INPP5E fail to localize to primary cilia in TULP3-KO cells. | TULP3 is required for localization of membrane-associated proteins ARL13B and INPP5E to primary cilia.
Han S, Miyoshi K, Shikada S, Amano G, Wang Y, Yoshimura T, Katayama T. | 10/12/2019 |
| miR598 contributed to cell proliferation and cell cycle progression in colorectal carcinoma by targeting INPP5E. | Upregulation of miR‑598 promotes cell proliferation and cell cycle progression in human colorectal carcinoma by suppressing INPP5E expression.
Li KP, Fang YP, Liao JQ, Duan JD, Feng LG, Luo XZ, Liang ZJ., Free PMC Article | 08/25/2018 |
| INPP5E associates with the N-terminus of RPGR and trafficking of INPP5E to cilia is dependent upon the ciliary localization of RPGR. | Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.
Rao KN, Zhang W, Li L, Anand M, Khanna H., Free PMC Article | 03/3/2018 |
| we identify Inpp5e as an essential inhibitor of the PI3K/Akt/mTORC1 signaling axis in renal epithelial cells, and demonstrate a critical role for Inpp5e-dependent mTORC1 regulation in Polycystic kidney disease (PKD) suppression | 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. | 09/30/2017 |
| ARL13B regulates IFT-A-mediated retrograde protein trafficking within cilia through its interaction with INPP5E. | 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. | 08/5/2017 |
| In neuronal cells, INPP5E knockdown strongly inhibited autophagy by impairing the autophagosome-lysosome fusion step. | 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., Free PMC Article | 07/1/2017 |
| INPP5E localizes to centrosomes, chromosomes, and kinetochores in early mitosis and shuttles to the midzone spindle at mitotic exit. | INPP5E Preserves Genomic Stability through Regulation of Mitosis.
Sierra Potchanant EA, Cerabona D, Sater ZA, He Y, Sun Z, Gehlhausen J, Nalepa G., Free PMC Article | 07/1/2017 |
| INPP5E is an essential point of convergence between Hedgehog and phosphoinositide signaling at cilia that maintains transition zone function and Hedgehog-dependent embryonic development. | 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., Free PMC Article | 06/3/2017 |
| MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content. | 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., Free PMC Article | 10/22/2016 |
| PIPKIgamma and INPP5E localize to the centrosome and coordinate the initiation of ciliogenesis. | Phosphatidylinositol phosphate kinase PIPKIγ and phosphatase INPP5E coordinate initiation of ciliogenesis.
Xu Q, Zhang Y, Wei Q, Huang Y, Hu J, Ling K., Free PMC Article | 07/16/2016 |
| These findings establish the first direct link between AURKA and phosphoinositide signaling and suggest that the function of INPP5E in cilia is at least partly mediated by its interactions with AURKA | 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., Free PMC Article | 03/5/2016 |
| Proteomic analysis identified INPP5E, whose mutations also lead to Joubert syndrome as novel prenyl-dependent cargo of PDE6D. Mutant PDE6D shows reduced binding to INPP5E, which fails to localize to primary cilia in patient fibroblasts and tissues. | 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., Free PMC Article | 08/9/2014 |
| Identification of 12 different INPP5E mutations in patients with Joubert syndrome with an overall 2.7% mutation frequency. | 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., Free PMC Article | 05/3/2014 |
| findings indicate that ARL13B, INPP5E, PDE6D, and CEP164 form a distinct functional network that is involved in JBTS and NPHP but independent of the ones previously defined by NPHP and MKS proteins | 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., Free PMC Article | 02/23/2013 |
| Observational study of gene-disease association. (HuGE Navigator) | 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., Free PMC Article | 12/5/2010 |
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. | 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., Free PMC Article | 01/21/2010 |
| INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in humans. | 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. | 01/21/2010 |
| Functional analysis of the mouse counterpart. | 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. | 11/5/2003 |