Results 51 to 60 of about 4,156 (218)

The unexpected role of Drosophila OCRL during cytokinesis

Communicative & Integrative Biology, 2012
Inositides are intrinsic components of cell membranes that regulate a wide variety of cellular functions. PtdIns(4,5)P(2,) one of the most abundant phosphoinositides, is restricted at the plasma membrane where it regulates numerous functions including cell division.
Ben El Kadhi, Khaled, Emery, Grégory, Carreno, Sebastien   +2 more
openaire   +2 more sources

Primary cilia signaling mediates intraocular pressure sensation [PDF]

, 2014
Lowe syndrome is a rare X-linked congenital disease that presents with congenital cataracts and glaucoma, as well as renal and cerebral dysfunction. OCRL, an inositol polyphosphate 5-phosphatase, is mutated in Lowe syndrome.
Cantor, Louis B., Chen, Xingjuan, Conwell, Michael D., Corson, Timothy W., Iomini, Carlo, Joos, Karen M., Kettenhofen, Christine Insinna, Luo, Na, Obukhov, Alexander G., Spandau, Dan F., Sun, Yang, Weinreb, Robert N., Wells, Clark D., Westlake, Christopher J.   +13 more
core   +2 more sources

Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome

Stem Cell Research, 2021
X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated.
Xiaolin Liu, Yong Liu, Yanyan Ma, Yaoqin Gong, Qiji Liu, Wenjie Sun, Hui Guo   +6 more
doaj   +1 more source

Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

Disease Models & Mechanisms, 2020
A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes.
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan   +19 more
doaj   +1 more source

Lowe syndrome – Case report with a novel mutation in the oculocerebrorenal gene

Saudi Journal of Kidney Diseases and Transplantation, 2020
The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome.
Suman Sethi, Nitin Sethi, Sudhir Mehta, Simran Kaur, Vikas Makkar, P M Sohal   +5 more
doaj   +1 more source

Prenatal diagnosis of Lowe syndrome in a male fetus with isolated bilateral cataract

Heliyon, 2022
Background: Lowe syndrome is a rare disease characterized by the association of congenital cataract, hypotonia, followed by global psychomotor delay and intellectual disability, as well as progressive renal dysfunction, and renal failure occurring at ...
Flavien Rouxel, Julien Fauré, Jean-Michel Faure, Françoise Deschamps, Gilles Burlet, Anaig Flandrin, Alain Couture, Olivier Prodhomme, John Rendu, Marjolaine Willems   +9 more
doaj   +1 more source

PDE6δ-mediated sorting of INPP5E into the cilium is determined by cargo-carrier affinity [PDF]

, 2016
The phosphodiesterase 6 delta subunit (PDE6δ) shuttles several farnesylated cargos between membranes. The cargo sorting mechanism between cilia and other compartments is not understood.
Fansa, Eyad Kalawy, Ismail, Shehab, Kösling, Stefanie Kristine, Wittinghofer, Alfred, Zent, Eldar   +4 more
core   +1 more source

Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene

Journal of Child Science, 2021
Lowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy.
A. Parikh, P. Gadgil
semanticscholar   +1 more source

OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates [PDF]

, 2015
Mutation of the inositol 5-phosphatase OCRL1 causes Lowe syndrome and Dent-2 disease. Loss of OCRL1 function perturbs several cellular processes, including membrane traffic, but the underlying mechanisms remain poorly defined.
Billcliff, PG, Lowe, M, Mak, L, Mehta, ZB, Noakes, CJ, Woscholski, R, Yan, G   +6 more
core   +1 more source

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.

PLoS ONE, 2013
Inositol phosphatases are important regulators of cell signaling, polarity, and vesicular trafficking. Mutations in OCRL, an inositol polyphosphate 5-phosphatase, result in Oculocerebrorenal syndrome of Lowe, an X-linked recessive disorder that presents ...
Na Luo, Akhilesh Kumar, Michael Conwell, Robert N Weinreb, Ryan Anderson, Yang Sun   +5 more
doaj   +1 more source