Results 181 to 190 of about 4,156 (218)

A genetic and physiological model of renal dysfunction in Lowe syndrome

Ramesh NA, Kataria V, Lama IS, Thakur R, Ghosh A, Sharma S, Venugopal A, Vasudevan A, Padinjat R.   +8 more
europepmc   +1 more source

Dysregulation of Inositol Polyphosphate 5-Phosphatase OCRL in Alzheimer’s Disease: Implications for Autophagy Dysfunction [PDF]

International Journal of Molecular Sciences
Autophagy is impaired in Alzheimer’s disease (AD), particularly at the stage of autophagosome–lysosome fusion. Recent studies suggest that the inositol polyphosphate 5-phosphatase OCRL (Lowe oculocerebrorenal syndrome protein) is involved in this fusion ...
Carolina Quintanilla-Sánchez, Siranjeevi Nagaraj, Karelle Leroy   +2 more
exaly   +3 more sources

Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts. [PDF]

Hum Mol Genet
Lowe syndrome, a rare X-linked multisystem disorder presenting with major abnormalities in the eyes, kidneys, and central nervous system, is caused by mutations in OCRL gene (NG_008638.1).
Siyu Chen, Chien-Hui Lo, Zhiquan Liu, Qing Wang, Ke Ning, Tingting Li, Yang Sun   +6 more
semanticscholar   +2 more sources

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Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis

Nature Cell Biology, 2011
Abscission is the least understood step of cytokinesis. It consists of the final cut of the intercellular bridge connecting the sister cells at the end of mitosis, and is thought to involve membrane trafficking as well as lipid and cytoskeleton remodelling.
Laurent Chesneau, Martin Sachse, Remi Salomon   +2 more
exaly   +3 more sources

The role of the Lowe syndrome protein OCRL in the endocytic pathway

Biological Chemistry, 2015
AbstractMutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized by renal defects. Lowe syndrome is furthermore characterized by defects of the eye (congenital cataracts) and nervous system (mental disabilities, hypotonia).
Kai Sven Erdmann
exaly   +3 more sources

Novel OCRL mutations in patients with Dent-2 disease

Journal of Pediatric Genetics, 2015
Dent disease is an X-linked tubulopathy frequently caused by mutations in the CLCN5 gene encoding the voltage-gated chloride channel and chloride/proton antiporter, ClC-5. About 15% of patients with a Dent' phenotype have mutations in the OCRL gene, which also causes Lowe oculocerebrorenal syndrome.
Bockenhauer, D., Bokenkamp, A., Nuutinen, M., Unwin, D., van't Hoff, W., Sirimanna, T., Vrljicak, K., Ludwig, M.   +7 more
openaire   +5 more sources

Novel OCRL mutations in Chinese children with Lowe syndrome

World Journal of Pediatrics, 2013
Lowe syndrome is a rare X-linked recessive hereditary disease caused by mutations of the OCRL gene, which encodes an inositol polyphosphate-5-phosphatase. The disease is clinically characterized by congenital cataracts, psychomotor retardation, and proximal tubulopathy.We retrospectively reviewed three unrelated Chinese patients with Lowe syndrome ...
Yan-Qin, Zhang, Fang, Wang, Jie, Ding, Hui, Yan, Yan-Ling, Yang   +4 more
openaire   +2 more sources