"The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase."
Attree O. , Olivos I.M. , Okabe I. , Bailey L.C. , Nelson D.L. , Lewis R.A. , McInnes R.R. , Nussbaum R.L.
Nature358:239-242(1992) [PubMed] [Europe PMC] [Abstract]

Attree O. , Olivos I.M. , Okabe I. , Bailey L.C. , Nelson D.L. , Lewis R.A. , McInnes R.R. , Nussbaum R.L.
Submitted (2001-03) to the EMBL/GenBank/DDBJ databases

"Physical mapping and genomic structure of the Lowe syndrome gene OCRL1."
Nussbaum R.L. , Orrison B.M. , Janne P.A. , Charnas L.R. , Chinault A.C.
Hum. Genet.99:145-150(1997) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , Yamamoto J. , Saito K. , Kawai Y. , Isono Y. , Nakamura Y. , Nagahari K. , Murakami K. , Yasuda T. , Iwayanagi T. , Wagatsuma M. , Shiratori A. , Sudo H. , Hosoiri T. , Kaku Y. , Kodaira H. , Kondo H. , Sugawara M. , Takahashi M. , Kanda K. , Yokoi T. , Furuya T. , Kikkawa E. , Omura Y. , Abe K. , Kamihara K. , Katsuta N. , Sato K. , Tanikawa M. , Yamazaki M. , Ninomiya K. , Ishibashi T. , Yamashita H. , Murakawa K. , Fujimori K. , Tanai H. , Kimata M. , Watanabe M. , Hiraoka S. , Chiba Y. , Ishida S. , Ono Y. , Takiguchi S. , Watanabe S. , Yosida M. , Hotuta T. , Kusano J. , Kanehori K. , Takahashi-Fujii A. , Hara H. , Tanase T.-O. , Nomura Y. , Togiya S. , Komai F. , Hara R. , Takeuchi K. , Arita M. , Imose N. , Musashino K. , Yuuki H. , Oshima A. , Sasaki N. , Aotsuka S. , Yoshikawa Y. , Matsunawa H. , Ichihara T. , Shiohata N. , Sano S. , Moriya S. , Momiyama H. , Satoh N. , Takami S. , Terashima Y. , Suzuki O. , Nakagawa S. , Senoh A. , Mizoguchi H. , Goto Y. , Shimizu F. , Wakebe H. , Hishigaki H. , Watanabe T. , Sugiyama A. , Takemoto M. , Kawakami B. , Yamazaki M. , Watanabe K. , Kumagai A. , Itakura S. , Fukuzumi Y. , Fujimori Y. , Komiyama M. , Tashiro H. , Tanigami A. , Fujiwara T. , Ono T. , Yamada K. , Fujii Y. , Ozaki K. , Hirao M. , Ohmori Y. , Kawabata A. , Hikiji T. , Kobatake N. , Inagaki H. , Ikema Y. , Okamoto S. , Okitani R. , Kawakami T. , Noguchi S. , Itoh T. , Shigeta K. , Senba T. , Matsumura K. , Nakajima Y. , Mizuno T. , Morinaga M. , Sasaki M. , Togashi T. , Oyama M. , Hata H. , Watanabe M. , Komatsu T. , Mizushima-Sugano J. , Satoh T. , Shirai Y. , Takahashi Y. , Nakagawa K. , Okumura K. , Nagase T. , Nomura N. , Kikuchi H. , Masuho Y. , Yamashita R. , Nakai K. , Yada T. , Nakamura Y. , Ohara O. , Isogai T. , Sugano S. more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , Hurles M.E. , Andrews T.D. , Scott C.E. , Searle S. , Ramser J. , Whittaker A. , Deadman R. , Carter N.P. , Hunt S.E. , Chen R. , Cree A. , Gunaratne P. , Havlak P. , Hodgson A. , Metzker M.L. , Richards S. , Scott G. , Steffen D. , Sodergren E. , Wheeler D.A. , Worley K.C. , Ainscough R. , Ambrose K.D. , Ansari-Lari M.A. , Aradhya S. , Ashwell R.I. , Babbage A.K. , Bagguley C.L. , Ballabio A. , Banerjee R. , Barker G.E. , Barlow K.F. , Barrett I.P. , Bates K.N. , Beare D.M. , Beasley H. , Beasley O. , Beck A. , Bethel G. , Blechschmidt K. , Brady N. , Bray-Allen S. , Bridgeman A.M. , Brown A.J. , Brown M.J. , Bonnin D. , Bruford E.A. , Buhay C. , Burch P. , Burford D. , Burgess J. , Burrill W. , Burton J. , Bye J.M. , Carder C. , Carrel L. , Chako J. , Chapman J.C. , Chavez D. , Chen E. , Chen G. , Chen Y. , Chen Z. , Chinault C. , Ciccodicola A. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S. , Clerc-Blankenburg K. , Clifford K. , Cobley V. , Cole C.G. , Conquer J.S. , Corby N. , Connor R.E. , David R. , Davies J. , Davis C. , Davis J. , Delgado O. , Deshazo D. , Dhami P. , Ding Y. , Dinh H. , Dodsworth S. , Draper H. , Dugan-Rocha S. , Dunham A. , Dunn M. , Durbin K.J. , Dutta I. , Eades T. , Ellwood M. , Emery-Cohen A. , Errington H. , Evans K.L. , Faulkner L. , Francis F. , Frankland J. , Fraser A.E. , Galgoczy P. , Gilbert J. , Gill R. , Gloeckner G. , Gregory S.G. , Gribble S. , Griffiths C. , Grocock R. , Gu Y. , Gwilliam R. , Hamilton C. , Hart E.A. , Hawes A. , Heath P.D. , Heitmann K. , Hennig S. , Hernandez J. , Hinzmann B. , Ho S. , Hoffs M. , Howden P.J. , Huckle E.J. , Hume J. , Hunt P.J. , Hunt A.R. , Isherwood J. , Jacob L. , Johnson D. , Jones S. , de Jong P.J. , Joseph S.S. , Keenan S. , Kelly S. , Kershaw J.K. , Khan Z. , Kioschis P. , Klages S. , Knights A.J. , Kosiura A. , Kovar-Smith C. , Laird G.K. , Langford C. , Lawlor S. , Leversha M. , Lewis L. , Liu W. , Lloyd C. , Lloyd D.M. , Loulseged H. , Loveland J.E. , Lovell J.D. , Lozado R. , Lu J. , Lyne R. , Ma J. , Maheshwari M. , Matthews L.H. , McDowall J. , McLaren S. , McMurray A. , Meidl P. , Meitinger T. , Milne S. , Miner G. , Mistry S.L. , Morgan M. , Morris S. , Mueller I. , Mullikin J.C. , Nguyen N. , Nordsiek G. , Nyakatura G. , O'dell C.N. , Okwuonu G. , Palmer S. , Pandian R. , Parker D. , Parrish J. , Pasternak S. , Patel D. , Pearce A.V. , Pearson D.M. , Pelan S.E. , Perez L. , Porter K.M. , Ramsey Y. , Reichwald K. , Rhodes S. , Ridler K.A. , Schlessinger D. , Schueler M.G. , Sehra H.K. , Shaw-Smith C. , Shen H. , Sheridan E.M. , Shownkeen R. , Skuce C.D. , Smith M.L. , Sotheran E.C. , Steingruber H.E. , Steward C.A. , Storey R. , Swann R.M. , Swarbreck D. , Tabor P.E. , Taudien S. , Taylor T. , Teague B. , Thomas K. , Thorpe A. , Timms K. , Tracey A. , Trevanion S. , Tromans A.C. , d'Urso M. , Verduzco D. , Villasana D. , Waldron L. , Wall M. , Wang Q. , Warren J. , Warry G.L. , Wei X. , West A. , Whitehead S.L. , Whiteley M.N. , Wilkinson J.E. , Willey D.L. , Williams G. , Williams L. , Williamson A. , Williamson H. , Wilming L. , Woodmansey R.L. , Wray P.W. , Yen J. , Zhang J. , Zhou J. , Zoghbi H. , Zorilla S. , Buck D. , Reinhardt R. , Poustka A. , Rosenthal A. , Lehrach H. , Meindl A. , Minx P.J. , Hillier L.W. , Willard H.F. , Wilson R.K. , Waterston R.H. , Rice C.M. , Vaudin M. , Coulson A. , Nelson D.L. , Weinstock G. , Sulston J.E. , Durbin R.M. , Hubbard T. , Gibbs R.A. , Beck S. , Rogers J. , Bentley D.R. more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , Yooseph S. , Lu F. , Nusskern D.R. , Shue B.C. , Zheng X.H. , Zhong F. , Delcher A.L. , Huson D.H. , Kravitz S.A. , Mouchard L. , Reinert K. , Remington K.A. , Clark A.G. , Waterman M.S. , Eichler E.E. , Adams M.D. , Hunkapiller M.W. , Myers E.W. , Venter J.C. more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe."
Leahey A.-M. , Charnas L.R. , Nussbaum R.L.
Hum. Mol. Genet.2:461-463(1993) [PubMed] [Europe PMC] [Abstract]

"The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase."
Zhang X. , Jefferson A.B. , Auethavekiat V. , Majerus P.W.
Proc. Natl. Acad. Sci. U.S.A.92:4853-4856(1995) [PubMed] [Europe PMC] [Abstract]

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

"Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1."
Swan L.E. , Tomasini L. , Pirruccello M. , Lunardi J. , De Camilli P.
Proc. Natl. Acad. Sci. U.S.A.107:3511-3516(2010) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway."
Noakes C.J. , Lee G. , Lowe M.
Mol. Biol. Cell22:606-623(2011) [PubMed] [Europe PMC] [Abstract]

"OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome."
Luo N. , West C.C. , Murga-Zamalloa C.A. , Sun L. , Anderson R.M. , Wells C.D. , Weinreb R.N. , Travers J.B. , Khanna H. , Sun Y.
Hum. Mol. Genet.21:3333-3344(2012) [PubMed] [Europe PMC] [Abstract]

"The Lowe syndrome protein OCRL1 is involved in primary cilia assembly."
Coon B.G. , Hernandez V. , Madhivanan K. , Mukherjee D. , Hanna C.B. , Barinaga-Rementeria Ramirez I. , Lowe M. , Beales P.L. , Aguilar R.C.
Hum. Mol. Genet.21:1835-1847(2012) [PubMed] [Europe PMC] [Abstract]

"Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL."
Pirruccello M. , De Camilli P.
Trends Biochem. Sci.37:134-143(2012) [PubMed] [Europe PMC] [Abstract]

"A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism."
Mao Y. , Balkin D.M. , Zoncu R. , Erdmann K.S. , Tomasini L. , Hu F. , Jin M.M. , Hodsdon M.E. , De Camilli P.
EMBO J.28:1831-1842(2009) [PubMed] [Europe PMC] [Abstract]

"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. , Itzen A.
EMBO J.30:1659-1670(2011) [PubMed] [Europe PMC] [Abstract]

"A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway."
Erdmann K.S. , Mao Y. , McCrea H.J. , Zoncu R. , Lee S. , Paradise S. , Modregger J. , Biemesderfer D. , Toomre D. , De Camilli P.
Dev. Cell13:377-390(2007) [PubMed] [Europe PMC] [Abstract]

"Recognition of the F&H motif by the Lowe syndrome protein OCRL."
Pirruccello M. , Swan L.E. , Folta-Stogniew E. , De Camilli P.
Nat. Struct. Mol. Biol.18:789-795(2011) [PubMed] [Europe PMC] [Abstract]

"Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome."
Lin T. , Orrison B.M. , Leahey A.-M. , Suchy S.F. , Bernard D.J. , Lewis R.A. , Nussbaum R.L.
Am. J. Hum. Genet.60:1384-1388(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients."
Lin T. , Orrison B.M. , Suchy S.F. , Lewis R.A. , Nussbaum R.L.
Mol. Genet. Metab.64:58-61(1998) [PubMed] [Europe PMC] [Abstract]

"Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes."
Kawano T. , Indo Y. , Nakazato H. , Shimadzu M. , Matsuda I.
Am. J. Med. Genet.77:348-355(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome."
Kubota T. , Sakurai A. , Arakawa K. , Shimazu M. , Wakui K. , Furihata K. , Fukushima Y.
Clin. Genet.54:199-202(1998) [PubMed] [Europe PMC] [Abstract]

"OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling."
Monnier N. , Satre V. , Lerouge E. , Berthoin F. , Lunardi J.
Hum. Mutat.16:157-165(2000) [PubMed] [Europe PMC] [Abstract]

"Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination."
Roeschinger W. , Muntau A.C. , Rudolph G. , Roscher A.A. , Kammerer S.
Mol. Genet. Metab.69:213-222(2000) [PubMed] [Europe PMC] [Abstract]

"Dent disease with mutations in OCRL1."
Hoopes R.R. Jr. , Shrimpton A.E. , Knohl S.J. , Hueber P. , Hoppe B. , Matyus J. , Simckes A. , Tasic V. , Toenshoff B. , Suchy S.F. , Nussbaum R.L. , Scheinman S.J.
Am. J. Hum. Genet.76:260-267(2005) [PubMed] [Europe PMC] [Abstract]

"OCRL1 mutations in patients with Dent disease phenotype in Japan."
Sekine T. , Nozu K. , Iyengar R. , Fu X.J. , Matsuo M. , Tanaka R. , Iijima K. , Matsui E. , Harita Y. , Inatomi J. , Igarashi T.
Pediatr. Nephrol.22:975-980(2007) [PubMed] [Europe PMC] [Abstract]

"Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation."
Yuksel A. , Karaca E. , Albayram M.S.
J. Child Neurol.24:93-96(2009) [PubMed] [Europe PMC] [Abstract]

"From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes."
Hichri H. , Rendu J. , Monnier N. , Coutton C. , Dorseuil O. , Poussou R.V. , Baujat G. , Blanchard A. , Nobili F. , Ranchin B. , Remesy M. , Salomon R. , Satre V. , Lunardi J.
Hum. Mutat.32:379-388(2011) [PubMed] [Europe PMC] [Abstract]