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Lowe syndrome is a rare, developmental disorder caused by mutations in the phosphatase, OCRL. A study in this issue of EMBO Reports shows that OCRL is required for microtubule nucleation and that mutations in this protein lead to an inability to activate mTORC1 signaling and consequent cell proliferation in the presence of nutrients. These defects are the result of impaired microtubule-dependent lysosomal trafficking to the cell periphery and are independent of OCRL phosphatase activity.
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http://dx.doi.org/10.15252/embr.202153232 | DOI Listing |
Front Cell Dev Biol
July 2025
Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
Lowe syndrome and Dent-2 disease are caused by mutations in the gene encoding OCRL, an inositol 5-phosphatase. The phenotype manifests in the eyes, brain and kidney, with the extra-renal features milder in the case of Dent-2 disease. Zebrafish has been used to study OCRL function and to successfully model these two rare genetic conditions.
View Article and Find Full Text PDFInt J Cardiovasc Imaging
September 2025
Department of Radiology, Royal United Hospitals Bath NHS Foundation Trust, Combe Park, Avon, Bath, BA1 3NG, UK.
Fractional flow reserve (FFR) post percutaneous coronary intervention (PCI) is an important determinant of patient outcomes. A new virtual stent planning tool allows users to model PCI and obtain post PCI FFR. We hypothesised that where a sub-optimal post PCI FFR was predicted theoretical management may be altered prior to invasive angiography.
View Article and Find Full Text PDFJCSM Commun
February 2025
Division of Pharmaceutics and Pharmacology, College of Pharmacy, The Ohio State University, Columbus, OH, USA.
Background: Cancer cachexia is a debilitating syndrome characterized by irreversible losses in skeletal muscle mass, with or without losses in adipose tissue. Cancer cachexia is an underrecognized syndrome that impacts ~50% of all cancer patients and accounts for up to ~20% of all cancer deaths [1, 2]. Lung cancer remains one of the deadliest cancers in the United States with an estimated 137,000 deaths in the year 2021 alone [3].
View Article and Find Full Text PDFJ Pediatr Health Care
July 2025
Tracy B. Lowe, Assistant Professor, Clemson University, 605 Grove Road, Office #221, Greenville, SC 29605.
Angelman syndrome is a rare genetic disorder with various phenotypes caused by the combination of genomic imprinting and loss of the maternal UBE3A gene. The case presentation involves a nine-month-old who continues with developmental delays after working with an early intervention therapist and was later diagnosed with Angelman syndrome following several specialty referrals and genetic testing. Currently, there is no cure for Angelman syndrome, only supportive symptomatic treatment.
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