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OCRL1 is required for renal tubular endocytosis.
Knockdown of OCRL1 in zebrafish caused developmental defects consistent with disruption of ciliary function.
results indicate a novel role for OCRL1 in neural development, and support a model whereby dysregulation of phosphoinositide metabolism and clathrin-mediated membrane traffic leads to the neurological symptoms of Lowe syndrome
Study has identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutations are detected at c.739-742delAAAG in Lowe patient 1 and c.1595-1631del in Lowe patient 2.
OCRL mutation is associated with progressive chronic kidney disease.
loss of OCRL results in abnormal distribution of PI(4,5)P2 in the proximal regions of cilia.
patients with OCRL-1 mutations or type 1 Dent disease showed abnormally low levels of urinary A-megalin
OCRL1 gene mutation is responsible in the development od Lowe syndrome in Chinese families.
docrl ( phosphatidylinositol-5-phosphatase OCRL)regulation of endosomal traffic maintains hemocytes in a poised, but quiescent state, suggesting mechanisms by which endosomal misregulation of signaling may contribute to symptoms of Lowe syndrome
We discuss how studies of OCRL have led to important discoveries about the basic mechanisms of membrane trafficking and describe the key features and limitations of the currently available animal models of Lowe syndrome. Mutations in OCRL can also give rise to a milder pathology, Dent disease 2, which is characterized by renal Fanconi syndrome in the absence of extrarenal pathologies.
A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1.
Depleting or inhibiting OCRL leads to an accumulation of lysosomal PtdIns(4,5)P2, an inhibitor of the calcium channel mucolipin-1 that controls autophagosome-lysosome fusion
Here we show that OCRL1 is part of the membrane-trafficking machinery operating at the trans-Golgi network (TGN)/endosome interface.
Authors propose that the precise spatial and temporal activation of Rab35 acts as a major switch for OCRL recruitment on newborn endosomes, post-scission PtdIns(4,5)P2 hydrolysis, and subsequent endosomal trafficking.
OCRL mRNA and protein were downregulated in osteoarthritis knee cartilage. OCRL inhibits Rac1 activation in OA.
OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Results indicate that inositol 5-phosphatase OCRL acts as an uncoating factor and that defects in clathrin-mediated endocytosis likely contribute to pathology in patients with OCRL mutations.
The crystal structures of human OCRL in complex with phosphoinositide substrate analogs revealed a membrane interaction patch likely to assist in sequestering substrates from the lipid bilayer.
Implications of OCRL and TRPV4 in primary cilia function may also shed light on mechanosensation in other organ systems.
Dent disease is caused by mutations in at least two genes, i.e. CLCN5 and OCRL1, and its genetic background and phenotypes are common among European countries and the USA.
Three Chinese children were diagnosed with Lowe syndrome through clinical and genetic analyses. And two novel mutations in the OCRL gene were identified
a role of OCRL in cilia maintenance and suggest the involvement of ciliary dysfunction in the manifestation of Lowe syndrome.
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease.
inositol polyphosphate 5-phosphatase OCRL-1
, phosphatidylinositol polyphosphate 5-phosphatase
, phosphatidylinositol polyphosphate 5-phosphotase
, oculocerebrorenal syndrome of Lowe
, phosphatidylinositol polyphosphate 5-phosphatase-like
, inositol polyphosphate 5-phosphatase OCRL-1-like
, Lowe oculocerebrorenal syndrome protein