메뉴 건너뛰기




Volumn 21, Issue 8, 2012, Pages 1835-1847

The lowe syndrome protein OCRL1 is involved in primary cilia assembly

Author keywords

[No Author keywords available]

Indexed keywords

OCULOCEREBRORENAL SYNDROME OF LOWE 1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 84859243937     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr615     Document Type: Article
Times cited : (83)

References (41)
  • 2
    • 33845545435 scopus 로고    scopus 로고
    • The modular nature of genetic diseases
    • Oti, M. and Brunner, H.G. (2007) The modular nature of genetic diseases. Clin. Genet., 71, 1-11.
    • (2007) Clin. Genet. , vol.71 , pp. 1-11
    • Oti, M.1    Brunner, H.G.2
  • 3
    • 52549091027 scopus 로고    scopus 로고
    • Phosphoinositides as regulators of membrane trafficking in health and disease
    • Vicinanza, M., D'Angelo, G., Di Campli, A. and De Matteis, M.A. (2008) Phosphoinositides as regulators of membrane trafficking in health and disease. Cell Mol. Life Sci., 65, 2833-2841.
    • (2008) Cell Mol. Life Sci. , vol.65 , pp. 2833-2841
    • Vicinanza, M.1    D'Angelo, G.2    Di Campli, A.3    De Matteis, M.A.4
  • 5
    • 77951101203 scopus 로고    scopus 로고
    • The primary cilium: a signalling centre during vertebrate development
    • Goetz, S.C. and Anderson, K.V. (2010) The primary cilium: a signalling centre during vertebrate development. Nat. Rev. Genet., 11, 331-344.
    • (2010) Nat. Rev. Genet. , vol.11 , pp. 331-344
    • Goetz, S.C.1    Anderson, K.V.2
  • 6
    • 70449417630 scopus 로고    scopus 로고
    • Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase
    • Coon, B.G., Mukherjee, D., Hanna, C.B., Riese, D.J. II, Lowe, M. and Aguilar, R.C. (2009) Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase. Hum. Mol. Genet., 18, 4478-4491.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 4478-4491
    • Coon, B.G.1    Mukherjee, D.2    Hanna, C.B.3    Riese II, D.J.4    Lowe, M.5    Aguilar, R.C.6
  • 8
    • 33748066001 scopus 로고    scopus 로고
    • Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases
    • Hyvola, N., Diao, A., McKenzie, E., Skippen, A., Cockcroft, S. and Lowe, M. (2006) Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases. EMBO J., 25, 3750-3761.
    • (2006) EMBO J. , vol.25 , pp. 3750-3761
    • Hyvola, N.1    Diao, A.2    McKenzie, E.3    Skippen, A.4    Cockcroft, S.5    Lowe, M.6
  • 13
    • 33646141379 scopus 로고    scopus 로고
    • A novel domain suggests a ciliary function for ASPM, a brain size determining gene
    • Ponting, C.P. (2006) A novel domain suggests a ciliary function for ASPM, a brain size determining gene. Bioinformatics, 22, 1031-1035.
    • (2006) Bioinformatics , vol.22 , pp. 1031-1035
    • Ponting, C.P.1
  • 14
    • 78249252071 scopus 로고    scopus 로고
    • Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe syndrome
    • Bothwell, S.P., Farber, L.W., Hoagland, A. and Nussbaum, R.L. (2010) Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe syndrome. Mamm. Genome, 21, 458-466.
    • (2010) Mamm. Genome , vol.21 , pp. 458-466
    • Bothwell, S.P.1    Farber, L.W.2    Hoagland, A.3    Nussbaum, R.L.4
  • 15
    • 0038361129 scopus 로고    scopus 로고
    • Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice
    • Janne, P.A., Suchy, S.F., Bernard, D., MacDonald, M., Crawley, J., Grinberg, A., Wynshaw-Boris, A., Westphal, H. and Nussbaum, R.L. (1998) Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. J. Clin. Invest., 101, 2042-2053.
    • (1998) J. Clin. Invest. , vol.101 , pp. 2042-2053
    • Janne, P.A.1    Suchy, S.F.2    Bernard, D.3    MacDonald, M.4    Crawley, J.5    Grinberg, A.6    Wynshaw-Boris, A.7    Westphal, H.8    Nussbaum, R.L.9
  • 17
    • 77955924401 scopus 로고    scopus 로고
    • Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish
    • May-Simera, H.L., Kai, M., Hernandez, V., Osborn, D.P.S., Tada, M. and Beales, P.L. (2010) Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. Dev. Biol., 345, 215-225.
    • (2010) Dev. Biol. , vol.345 , pp. 215-225
    • May-Simera, H.L.1    Kai, M.2    Hernandez, V.3    Osborn, D.P.S.4    Tada, M.5    Beales, P.L.6
  • 18
    • 35948936011 scopus 로고    scopus 로고
    • Redundancy and evolution of GATA factor requirements in development of the myocardium
    • Peterkin, T., Gibson, A. and Patient, R. (2007) Redundancy and evolution of GATA factor requirements in development of the myocardium. Dev. Biol., 311, 623-635.
    • (2007) Dev. Biol. , vol.311 , pp. 623-635
    • Peterkin, T.1    Gibson, A.2    Patient, R.3
  • 21
    • 79952345977 scopus 로고    scopus 로고
    • The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway
    • Noakes, C.J., Lee, G. and Lowe, M. (2011) The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. Mol. Biol. Cell, 22, 606-623.
    • (2011) Mol. Biol. Cell , vol.22 , pp. 606-623
    • Noakes, C.J.1    Lee, G.2    Lowe, M.3
  • 22
    • 77649259149 scopus 로고    scopus 로고
    • Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1
    • Swan, L.E., Tomasini, L., Pirruccello, M., Lunardi, J. and De Camilli, P. (2010) Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. Proc. Natl Acad. Sci. USA, 107, 3511-3516.
    • (2010) Proc. Natl Acad. Sci. USA , vol.107 , pp. 3511-3516
    • Swan, L.E.1    Tomasini, L.2    Pirruccello, M.3    Lunardi, J.4    De Camilli, P.5
  • 24
    • 1942502194 scopus 로고    scopus 로고
    • Cell biology of normal and abnormal ciliogenesis in the ciliated epithelium
    • Hagiwara, H., Ohwada, N. and Takata, K. (2004) Cell biology of normal and abnormal ciliogenesis in the ciliated epithelium. Int. Rev. Cytol., 234, 101-141.
    • (2004) Int. Rev. Cytol. , vol.234 , pp. 101-141
    • Hagiwara, H.1    Ohwada, N.2    Takata, K.3
  • 27
    • 0032168064 scopus 로고    scopus 로고
    • Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA
    • Deretic, D., Schmerl, S., Hargrave, P.A., Arendt, A. andMcDowell, J.H. (1998) Regulation of sorting and post-Golgi trafficking of rhodopsin by its C-terminal sequence QVS(A)PA. Proc. Natl Acad. Sci. USA, 95, 10620-10625.
    • (1998) Proc. Natl Acad. Sci. USA , vol.95 , pp. 10620-10625
    • Deretic, D.1    Schmerl, S.2    Hargrave, P.A.3    Arendt, A.4    McDowell, J.H.5
  • 28
    • 77958471297 scopus 로고    scopus 로고
    • The Epsin family of endocytic adaptors promotes fibrosarcoma migration and invasion
    • Coon, B.G., Burgner, J., Camonis, J.H. and Aguilar, R.C. (2010) The Epsin family of endocytic adaptors promotes fibrosarcoma migration and invasion. J. Biol. Chem., 285, 33073-33081.
    • (2010) J. Biol. Chem. , vol.285 , pp. 33073-33081
    • Coon, B.G.1    Burgner, J.2    Camonis, J.H.3    Aguilar, R.C.4
  • 29
    • 79955000748 scopus 로고    scopus 로고
    • A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1
    • Hou, X., Hagemann, N., Schoebel, S., Blankenfeldt, W., Goody, R.S., Erdmann, K.S. and Itzen, A. (2011) A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1. EMBO J., 30, 1659-1670.
    • (2011) EMBO J. , vol.30 , pp. 1659-1670
    • Hou, X.1    Hagemann, N.2    Schoebel, S.3    Blankenfeldt, W.4    Goody, R.S.5    Erdmann, K.S.6    Itzen, A.7
  • 30
    • 65649144746 scopus 로고    scopus 로고
    • Differential clathrin binding and subcellular localization of OCRL1 splice isoforms
    • Choudhury, R., Noakes, C.J., McKenzie, E., Kox, C. and Lowe, M. (2009) Differential clathrin binding and subcellular localization of OCRL1 splice isoforms. J. Biol. Chem., 284, 9965-9973.
    • (2009) J. Biol. Chem. , vol.284 , pp. 9965-9973
    • Choudhury, R.1    Noakes, C.J.2    McKenzie, E.3    Kox, C.4    Lowe, M.5
  • 31
    • 78149296423 scopus 로고    scopus 로고
    • CEP290, a gene with many faces: mutation overview and presentation of CEP290base
    • Coppieters, F., Lefever, S., Leroy, B.P. and De Baere, E. (2010) CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum. Mutat., 31, 1097-1108.
    • (2010) Hum. Mutat. , vol.31 , pp. 1097-1108
    • Coppieters, F.1    Lefever, S.2    Leroy, B.P.3    De Baere, E.4
  • 34
    • 79951849928 scopus 로고    scopus 로고
    • An APPL1/Akt signaling complex regulates dendritic spine and synapse formation in hippocampal neurons
    • Majumdar, D., Nebhan, C.A., Hu, L., Anderson, B. and Webb, D.J. (2011) An APPL1/Akt signaling complex regulates dendritic spine and synapse formation in hippocampal neurons. Mol. Cell. Neurosci., 46, 633-644.
    • (2011) Mol. Cell. Neurosci. , vol.46 , pp. 633-644
    • Majumdar, D.1    Nebhan, C.A.2    Hu, L.3    Anderson, B.4    Webb, D.J.5
  • 37
    • 46749156739 scopus 로고    scopus 로고
    • Large scale screening for novel Rab effectors reveals unexpected broad Rab binding specificity
    • Fukuda, M., Kanno, E., Ishibashi, K. and Itoh, T. (2008) Large scale screening for novel Rab effectors reveals unexpected broad Rab binding specificity. Mol. Cell. Proteomics, 7, 1031-1042.
    • (2008) Mol. Cell. Proteomics , vol.7 , pp. 1031-1042
    • Fukuda, M.1    Kanno, E.2    Ishibashi, K.3    Itoh, T.4
  • 38
    • 73849118696 scopus 로고    scopus 로고
    • MICAL-L1 Links EHD1 to tubular recycling endosomes and regulates receptor recycling
    • Sharma, M., Giridharan, S.S.P., Rahajeng, J., Naslavsky, N. and Caplan, S. (2009) MICAL-L1 Links EHD1 to tubular recycling endosomes and regulates receptor recycling. Mol. Biol. Cell, 20, 5181-5194.
    • (2009) Mol. Biol. Cell , vol.20 , pp. 5181-5194
    • Sharma, M.1    Giridharan, S.S.P.2    Rahajeng, J.3    Naslavsky, N.4    Caplan, S.5
  • 41


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.