Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology-Reference-Cited by-同舟云学术

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Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

Published:2005-04-13 Issue:11 Volume:14 Page:1441-1448
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Faucherre Adèle,Desbois Pierrette,Nagano Fumiko,Satre Véronique,Lunardi Joël,Gacon Gérard,Dorseuil Olivier

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/14/11/1441/1659862/ddi153.pdf

Reference32 articles.

1. Attree, O., Olivos, I.M., Okabe, I., Bailey, L.C., Nelson, D.L., Lewis, R.A., McInnes, R.R. and Nussbaum, R.L. (1992) The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature, 358, 239–242.

2. Peck, J., Douglas, G.T., Wu, C.H. and Burbelo, P.D. (2002) Human RhoGAP domain-containing proteins: structure, function and evolutionary relationships. FEBS Lett., 528, 27–34.

3. Zhang, X., Jefferson, A.B., Auethavekiat, V. and Majerus, P.W. (1995) The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase. Proc. Natl Acad. Sci. USA, 92, 4853–4856.

4. Suchy, S.F., Olivos-Glander, I.M. and Nussbaum, R.L. (1995) Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. Hum. Mol. Genet., 4, 2245–2250.

5. Zhang, X., Hartz, P.A., Philip, E., Racusen, L.C. and Majerus, P.W. (1998) Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J. Biol. Chem., 273, 1574–1582.

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1. Oculocerebrorenal syndrome of Lowe (OCRL) controls leukemic T-cell survival by preventing excessive PI(4,5)P2 hydrolysis in the plasma membrane;Journal of Biological Chemistry;2023-06

2. SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase;Cell Reports;2021-11

3. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome;Nephrology Dialysis Transplantation;2021-09-29

4. Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes;Human Molecular Genetics;2021-01-30

5. SdhA interferes with disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase;2020-10-05

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