Results 191 to 200 of about 4,156 (218)

Clinical and laboratory features of Macedonian children with OCRL mutations

Pediatric Nephrology, 2011
OCRL mutations, which are a hallmark of Lowe syndrome, have recently been found in patients with isolated renal phenotype (Dent-2 disease). In this report, we describe clinical and laboratory features in five Macedonian children with mutations in the OCRL gene.
Velibor, Tasic, Vladimir J, Lozanovski, Petar, Korneti, Nadica, Ristoska-Bojkovska, Vesna, Sabolic-Avramovska, Zoran, Gucev, Michael, Ludwig   +6 more
openaire   +2 more sources

cDNA cloning and localization of OCRL-1 in rabbit kidney

American Journal of Physiology-Renal Physiology, 1997
The oculocerebrorenal syndrome of Lowe (OCRL) is a hereditary multisystem disorder characterized by congenital cataracts, mental retardation, renal tubular dysfunction, and progressive renal insufficiency. Tubular abnormalities include proximal tubular dysfunction, a distal acidification defect, and a possible impairment of urinary concentrating ...
B C, Erb, H, Velázquez, M, Gisser, C A, Shugrue, R F, Reilly   +4 more
openaire   +2 more sources

Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations

Journal of Chemical Information and Modeling, 2020
Inositol polyphosphate 5-phosphatase (OCRL-1) participates in the regulation of multiple cellular processes, through the conversion of phosphatidylinositol 4,5-phosphate to phosphatidylinositol 4-phosphate.
Natali Acosta-Tapia, J. F. Galindo, Rosa Baldiris   +2 more
semanticscholar   +1 more source

Characterization of Ocrl in Drosophila melanogaster

2020
Disease modelling has enabled researchers to study a wide range of human diseases in the laboratory, overcoming many challenges. Parkinson Disease (PD) is a progressive neurodegenerative disorder that affects 1 to 2% of the human population over 65 years old, influencing cognitive ability and motor function.
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The Polymorphism of OCRL Gene in Kidney Stones and Kidney Failure Patients

Iraqi Journal of Science
Kidney disease is a kidney injury or disease that affects many people globally. The study aims to evaluate the effect of Phosphatidyl Inositol (4,5) Bisphosphate, 5-Phosphatase (PIP2) enzyme on calcium (Ca2+) levels and its relationship to ...
Shatha Shakir Ahmed, Luma Hassan Alwan AL Obaidy   +1 more
semanticscholar   +1 more source

Structure Function Analysis of Drosophila OCRL

2013
Lowe syndrome is an X-linked disorder that is caused by defects in the protein OCRL (Oculocerebrorenal Syndrome of Lowe), a phosphoinositide-5-phosphatase implicated in membrane trafficking, phosphoinositide metabolism, actin dynamics and endocytosis.
openaire   +1 more source

OCRLMutation analysis in Italian patients with Lowe syndrome

Human Mutation, 2004
The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL was identified by positional cloning and encodes an inositol polyphosphate-5-phosphatase.
ADDIS, MARIA, LOI M, LEPIANI C, CAU, MILENA, MELIS MA   +4 more
openaire   +2 more sources

OCRL phosphatase controls actin reorganization during human and mouse platelet spreading

2021
Background: Phosphatidylinositol-4, 5-bisphosphate [PI(4, 5)P2] is a phosphoinositide found at the plasma membrane which regulates actin reorganization. Lowe oculocerebrorenal syndrome protein (OCRL) dephosphorylates PI(4, 5)P2 and its mutations cause Lowe syndrome which is characterized by congenital cataracts, central hypotonia, and renal proximal ...
Bura, Ana, Stainano Leopoldo, Morra, Valentina, De Matteis, Antonietta Maria, Jurak Begonja, Antonija   +4 more
openaire   +2 more sources

Zooming into Lowe syndrome: the role of OCRL in platelets

2021
Lowe syndrome (LS) is a rare, X-linked disorder that affects the brain, the eyes, and the kidneys. It is caused by mutations in the oculocerebrorenal syndrome of Lowe (OCRL) protein, a 5-phosphatase that dephosphorylates phosphatidylinositol-4, 5- bisphosphate [PI(4, 5)P2] resulting in the formation of phosphatidylinositol-4-monophosphate (PI4P).
Bura, Ana, Jurak Begonja, Antonija
openaire   +1 more source

Examining the activation status of OCRL inhibited platelets by flow cytometry

2021
We researched the involvement of phosphoinositides in the development and function of the smallest blood cells, platelets. In particular, I investigate phosphatidylinositol-4-monophosphate (PI4P), phosphatidylinositol-4, 5-bisphosphate [PI(4, 5)P2], and the oculocerebrorenal syndrome of Lowe protein (OCRL) that dephosphorylates PI(4, 5)P2 to PI4P ...
Bura, Ana, Jurak Begonja, Antonija
openaire