Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 9


The oculocerebrorenal syndrome of Lowe: an update.

Bökenkamp A, Ludwig M.

Pediatr Nephrol. 2016 Dec;31(12):2201-2212. Epub 2016 Mar 24. Review.


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 8;3:e02975. doi: 10.7554/eLife.02975.


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 12;18(7):789-95. doi: 10.1038/nsmb.2071.


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 RS, Erdmann KS, Itzen A.

EMBO J. 2011 Apr 20;30(8):1659-70. doi: 10.1038/emboj.2011.60. Epub 2011 Mar 4.


Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.

Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL.

J Am Soc Nephrol. 2011 Mar;22(3):443-8. doi: 10.1681/ASN.2010050565. Epub 2010 Dec 23.


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 SP, Farber LW, Hoagland A, Nussbaum RL.

Mamm Genome. 2010 Oct;21(9-10):458-66. doi: 10.1007/s00335-010-9281-7. Epub 2010 Sep 26.


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 23;107(8):3511-6. doi: 10.1073/pnas.0914658107. Epub 2010 Feb 2.


Increased levels of plasma lysosomal enzymes in patients with Lowe syndrome.

Ungewickell AJ, Majerus PW.

Proc Natl Acad Sci U S A. 1999 Nov 9;96(23):13342-4.


Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL.

J Clin Invest. 1998 May 15;101(10):2042-53.

Supplemental Content

Support Center