BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 18307981)

  • 1. All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.
    McCrea HJ; Paradise S; Tomasini L; Addis M; Melis MA; De Matteis MA; De Camilli P
    Biochem Biophys Res Commun; 2008 May; 369(2):493-9. PubMed ID: 18307981
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
    Swan LE; Tomasini L; Pirruccello M; Lunardi J; De Camilli P
    Proc Natl Acad Sci U S A; 2010 Feb; 107(8):3511-6. PubMed ID: 20133602
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.
    Erdmann KS; Mao Y; McCrea HJ; Zoncu R; Lee S; Paradise S; Modregger J; Biemesderfer D; Toomre D; De Camilli P
    Dev Cell; 2007 Sep; 13(3):377-90. PubMed ID: 17765681
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Recognition of the F&H motif by the Lowe syndrome protein OCRL.
    Pirruccello M; Swan LE; Folta-Stogniew E; De Camilli P
    Nat Struct Mol Biol; 2011 Jun; 18(7):789-95. PubMed ID: 21666675
    [TBL] [Abstract][Full Text] [Related]  

  • 5. OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.
    Festa BP; Berquez M; Gassama A; Amrein I; Ismail HM; Samardzija M; Staiano L; Luciani A; Grimm C; Nussbaum RL; De Matteis MA; Dorchies OM; Scapozza L; Wolfer DP; Devuyst O
    Hum Mol Genet; 2019 Jun; 28(12):1931-1946. PubMed ID: 30590522
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The role of the Lowe syndrome protein OCRL in the endocytic pathway.
    Sharma S; Skowronek A; Erdmann KS
    Biol Chem; 2015 Dec; 396(12):1293-300. PubMed ID: 26351914
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Structure and function of the Lowe syndrome protein OCRL1.
    Lowe M
    Traffic; 2005 Sep; 6(9):711-9. PubMed ID: 16101675
    [TBL] [Abstract][Full Text] [Related]  

  • 8. OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
    Montjean R; Aoidi R; Desbois P; Rucci J; Trichet M; Salomon R; Rendu J; Fauré J; Lunardi J; Gacon G; Billuart P; Dorseuil O
    Hum Mol Genet; 2015 Feb; 24(4):994-1006. PubMed ID: 25305077
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
    Rendu J; Montjean R; Coutton C; Suri M; Chicanne G; Petiot A; Brocard J; Grunwald D; Pietri Rouxel F; Payrastre B; Lunardi J; Dorseuil O; Marty I; Fauré J
    Hum Mutat; 2017 Feb; 38(2):152-159. PubMed ID: 27790796
    [TBL] [Abstract][Full Text] [Related]  

  • 10. OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
    Luo N; West CC; Murga-Zamalloa CA; Sun L; Anderson RM; Wells CD; Weinreb RN; Travers JB; Khanna H; Sun Y
    Hum Mol Genet; 2012 Aug; 21(15):3333-44. PubMed ID: 22543976
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature:
    Gianesello L; Arroyo J; Del Prete D; Priante G; Ceol M; Harris PC; Lieske JC; Anglani F
    Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34680992
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
    De Matteis MA; Staiano L; Emma F; Devuyst O
    Nat Rev Nephrol; 2017 Aug; 13(8):455-470. PubMed ID: 28669993
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
    Pirruccello M; De Camilli P
    Trends Biochem Sci; 2012 Apr; 37(4):134-43. PubMed ID: 22381590
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL in
    Luscher A; Fröhlich F; Barisch C; Littlewood C; Metcalfe J; Leuba F; Palma A; Pirruccello M; Cesareni G; Stagi M; Walther TC; Soldati T; De Camilli P; Swan LE
    Mol Biol Cell; 2019 Aug; 30(17):2268-2282. PubMed ID: 31216233
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network.
    Faucherre A; Desbois P; Satre V; Lunardi J; Dorseuil O; Gacon G
    Hum Mol Genet; 2003 Oct; 12(19):2449-56. PubMed ID: 12915445
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease.
    Wu G; Zhang W; Na T; Jing H; Wu H; Peng JB
    Am J Physiol Cell Physiol; 2012 May; 302(10):C1479-91. PubMed ID: 22378746
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations.
    Acosta-Tapia N; Galindo JF; Baldiris R
    J Chem Inf Model; 2020 Feb; 60(2):1019-1027. PubMed ID: 31967472
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.
    Lichter-Konecki U; Farber LW; Cronin JS; Suchy SF; Nussbaum RL
    Mol Genet Metab; 2006; 89(1-2):121-8. PubMed ID: 16777452
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Loss of OCRL increases ciliary PI(4,5)P
    Prosseda PP; Luo N; Wang B; Alvarado JA; Hu Y; Sun Y
    J Cell Sci; 2017 Oct; 130(20):3447-3454. PubMed ID: 28871046
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.
    Nández R; Balkin DM; Messa M; Liang L; Paradise S; Czapla H; Hein MY; Duncan JS; Mann M; De Camilli P
    Elife; 2014 Aug; 3():e02975. PubMed ID: 25107275
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.